About Enhancer
| Enhancer ID: | E_01_0675 |
| Species: | human |
| Position : | chr10:43074329-43076329   |
| Biosample name: | |
| Experiment class : | High+Lowthroughput |
| Enhancer type: | Enhancer |
| Disease: | Medullary thyroid carcinoma (mtc) |
| Pubmed ID: | 30321177 |
| Enhancer experiment: | Sanger sequencing,Next-generation sequencing (NGS),Real-time PCR,RNA immunoprecipitation (RIP) |
| Enhancer experiment description: | The p.Cys630 = variant created new exonic splicing enhancer motifs that enhanced SRp55 recruitment to the mutant allele, leading to more efficient maturation of its pre-mRNA and an increased abundance of mature mRNA encoding a constitutively active RET receptor. |
About Target gene
| Target gene : | RET(CDHF12,CDHR16,HSCR1,MEN2A,MEN2B,MTC1,PTC-ELE1) |
| Strong evidence: | qRT-PCR,qPCR,ChIP,3C |
| Less strong evidence: | RNA-Seq |
| Target gene experiment description: | The p.Cys630 = variant created new exonic splicing enhancer motifs that enhanced SRp55 recruitment to the mutant allele, leading to more efficient maturation of its pre-mRNA and an increased abundance of mature mRNA encoding a constitutively active RET receptor. |
About TF
| TF name : | -- |
| TF experiment: | Sanger sequencing,Next-generation sequencing (NGS),Real-time PCR,RNA immunoprecipitation (RIP) |
| TF experiment description: | The p.Cys630 = variant created new exonic splicing enhancer motifs that enhanced SRp55 recruitment to the mutant allele, leading to more efficient maturation of its pre-mRNA and an increased abundance of mature mRNA encoding a constitutively active RET receptor. |
About Function
| Enhancer function : | The p.Cys630 = variant created new exonic splicing enhancer motifs that enhanced SRp55 recruitment to the mutant allele, leading to more efficient maturation of its pre-mRNA and an increased abundance of mature mRNA encoding a constitutively active RET receptor. |
| Enhancer function experiment: | Immunohistochemical staining |
| Enhancer function experiment description: |
The p.Cys630 = variant created new exonic splicing enhancer motifs that enhanced SRp55 recruitment to the mutant allele, leading to more efficient maturation of its pre-mRNA and an increased abundance of mature mRNA encoding a constitutively active RET receptor. |
About SNP
| SNP ID: | -- |
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