🧬 基因注释：THOC6
📝 官方信息
官方名称：THO complex subunit 6
功能摘要：This gene encodes a subunit of the multi-protein THO complex, which is involved in coordination between transcription and mRNA processing. The THO complex is a component of the TREX (transcription/export) complex, which is involved in transcription and export of mRNAs. A missense mutation in this gene is associated with a neurodevelopmental disorder called Beaulieu-Boycott-Innes syndrome. [provided by RefSeq, Dec 2016].
🎯 作为靶基因的剪接因子
- CELF2 置信度: 2.0
- CPSF6 置信度: 2.0
- CSTF2T 置信度: 2.0
- EIF4A3 置信度: 2.0
- GRSF1 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPH1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM10 置信度: 2.0
- RBM15 置信度: 2.0
- FUS 置信度: 1.0
- PCBP2 置信度: 1.0
- PRPF8 置信度: 1.0
- Rbm7 置信度: 1.0
- Rbmx 置信度: 1.0
- Rbpms 置信度: 1.0
- Rnps1 置信度: 1.0
- Sf3b1 置信度: 1.0
- Srsf1 置信度: 1.0
🏥 关联疾病
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
(0.785)
genetic disorder
(0.517)
neurodegenerative disease
(0.461)
Intellectual disability
(0.383)
dystonia, early-onset, and/or spastic paraplegia
(0.161)