About Enhancer
| Enhancer ID: | E_01_0952 |
| Species: | human |
| Position : | chrX:48783413-48785413   |
| Biosample name: | |
| Experiment class : | High+Lowthroughput |
| Enhancer type: | Enhancer |
| Disease: | Pulmonary embolism |
| Pubmed ID: | 32649856 |
| Enhancer experiment: | qRT-PCR |
| Enhancer experiment description: | We identified a single sentinel variant in the GRK5 locus (rs10886430-G, p 3.0 3 10_x005f_x005f_x005f_x005f_x005f_x005f_x005f_x005f_x005f_x005f_x005f_x0002_ 42) associated with increased thrombin induced platelet aggregation (b 0.70, SE 0.05). We show that disruption of platelet GRK5 expression by rs10886430-G is associated with enhanced platelet reactivity. The proposed mechanism of a GATA1-driven megakaryocyte enhancer is confirmed in allele-specific exper_x0002_iments. |
About Target gene
| Target gene : | GRK5 |
| Strong evidence: | qRT-PCR,qPCR,ChIP,3C |
| Less strong evidence: | RNA-Seq |
| Target gene experiment description: | We identified a single sentinel variant in the GRK5 locus (rs10886430-G, p 3.0 3 10_x005f_x005f_x005f_x005f_x005f_x005f_x005f_x005f_x005f_x005f_x005f_x0002_ 42) associated with increased thrombin induced platelet aggregation (b 0.70, SE 0.05). We show that disruption of platelet GRK5 expression by rs10886430-G is associated with enhanced platelet reactivity. The proposed mechanism of a GATA1-driven megakaryocyte enhancer is confirmed in allele-specific exper_x0002_iments.;We identified a single sentinel variant in the GRK5 locus (rs10886430-G, p 3.0 3 10_x005f_x005f_x005f_x005f_x005f_x005f_x005f_x005f_x005f_x005f_x005f_x0002_ 42) associated with increased thrombin induced platelet aggregation (b 0.70, SE 0.05). We show that disruption of platelet GRK5 expression by rs10886430-G is associated with enhanced platelet reactivity. The proposed mechanism of a GATA1-driven megakaryocyte enhancer is confirmed in allele-specific exper_x0002_iments. |
About TF
| TF name : | GATA1(ERYF1,GATA-1,GF-1,GF1,NF-E1,NFE1,XLANP,XLTDA,XLTT) |
| TF experiment: | qRT-PCR |
| TF experiment description: | We identified a single sentinel variant in the GRK5 locus (rs10886430-G, p 3.0 3 10_x005f_x005f_x005f_x005f_x005f_x005f_x005f_x005f_x005f_x005f_x005f_x0002_ 42) associated with increased thrombin induced platelet aggregation (b 0.70, SE 0.05). We show that disruption of platelet GRK5 expression by rs10886430-G is associated with enhanced platelet reactivity. The proposed mechanism of a GATA1-driven megakaryocyte enhancer is confirmed in allele-specific exper_x0002_iments.;We identified a single sentinel variant in the GRK5 locus (rs10886430-G, p 3.0 3 10_x005f_x005f_x005f_x005f_x005f_x005f_x005f_x005f_x005f_x005f_x005f_x0002_ 42) associated with increased thrombin induced platelet aggregation (b 0.70, SE 0.05). We show that disruption of platelet GRK5 expression by rs10886430-G is associated with enhanced platelet reactivity. The proposed mechanism of a GATA1-driven megakaryocyte enhancer is confirmed in allele-specific exper_x0002_iments. |
About Function
| Enhancer function : | We identified a single sentinel variant in the GRK5 locus (rs10886430-G, p 3.0 3 10_x005f_x005f_x005f_x005f_x005f_x005f_x005f_x005f_x005f_x005f_x005f_x0002_ 42) associated with increased thrombin induced platelet aggregation (b 0.70, SE 0.05). We show that disruption of platelet GRK5 expression by rs10886430-G is associated with enhanced platelet reactivity. The proposed mechanism of a GATA1-driven megakaryocyte enhancer is confirmed in allele-specific exper_x0002_iments. |
| Enhancer function experiment: | Immunohistochemical staining |
| Enhancer function experiment description: |
We identified a single sentinel variant in the GRK5 locus (rs10886430-G, p 3.0 3 10_x005f_x005f_x005f_x005f_x005f_x005f_x005f_x005f_x005f_x005f_x005f_x0002_ 42) associated with increased thrombin induced platelet aggregation (b 0.70, SE 0.05). We show that disruption of platelet GRK5 expression by rs10886430-G is associated with enhanced platelet reactivity. The proposed mechanism of a GATA1-driven megakaryocyte enhancer is confirmed in allele-specific exper_x0002_iments. |
About SNP
| SNP ID: | -- |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| GATA1 | C-MYB transcription factor network | pid | 87 |
| GATA1 | Factors involved in megakaryocyte development and platelet production | reactome | 111 |
| GATA1 | IL3 | netpath | 84 |
| GATA1 | Notch-mediated HES/HEY network | pid | 48 |
| GATA1 | p73 transcription factor network | pid | 80 |
| GATA1 | Signaling events mediated by HDAC Class I | pid | 89 |
| GATA1 | Signaling events mediated by HDAC Class II | pid | 58 |
Enhancer associated network
The number on yellow line represents the distance between enhancer and
target gene