About Enhancer
| Enhancer ID: | E_01_0559 |
| Species: | human |
| Position : | chr9:127791794-127793794   |
| Biosample name: | |
| Experiment class : | High+Lowthroughput |
| Enhancer type: | Enhancer |
| Disease: | Leukemia |
| Pubmed ID: | 32391884 |
| Enhancer experiment: | PCR |
| Enhancer experiment description: | The intergenic SNP rs1382539 located in a regulatory element of DHFR was associated with increased levels of short-chain MTX polyglutamates (P = 1.1 10-8) due to suppression of enhancer activity, while rs35789560 in FPGS (p.R466C, P = 5.6 10-9) was associated with decreased levels of long-chain MTX polyglutamates through reduced catalytic activity. |
About Target gene
| Target gene : | FPGS |
| Strong evidence: | qRT-PCR,qPCR,ChIP,3C |
| Less strong evidence: | RNA-Seq |
| Target gene experiment description: | The intergenic SNP rs1382539 located in a regulatory element of DHFR was associated with increased levels of short-chain MTX polyglutamates (P = 1.1 10-8) due to suppression of enhancer activity, while rs35789560 in FPGS (p.R466C, P = 5.6 10-9) was associated with decreased levels of long-chain MTX polyglutamates through reduced catalytic activity. |
About TF
| TF name : | -- |
| TF experiment: | PCR |
| TF experiment description: | The intergenic SNP rs1382539 located in a regulatory element of DHFR was associated with increased levels of short-chain MTX polyglutamates (P = 1.1 10-8) due to suppression of enhancer activity, while rs35789560 in FPGS (p.R466C, P = 5.6 10-9) was associated with decreased levels of long-chain MTX polyglutamates through reduced catalytic activity. |
About Function
| Enhancer function : | The intergenic SNP rs1382539 located in a regulatory element of DHFR was associated with increased levels of short-chain MTX polyglutamates (P = 1.1 10-8) due to suppression of enhancer activity, while rs35789560 in FPGS (p.R466C, P = 5.6 10-9) was associated with decreased levels of long-chain MTX polyglutamates through reduced catalytic activity. |
| Enhancer function experiment: | Immunohistochemical staining |
| Enhancer function experiment description: |
The intergenic SNP rs1382539 located in a regulatory element of DHFR was associated with increased levels of short-chain MTX polyglutamates (P = 1.1 10-8) due to suppression of enhancer activity, while rs35789560 in FPGS (p.R466C, P = 5.6 10-9) was associated with decreased levels of long-chain MTX polyglutamates through reduced catalytic activity. |
About SNP
| SNP ID: | rs1382539,rs35789560 |
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