🧬 基因注释：RBFOX1
📝 官方信息
官方名称：RNA binding fox-1 homolog 1
功能摘要：The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.474 · 证据 2 条
- HNRNPH1 综合评分: 0.448 · 证据 2 条
- HNRNPL 综合评分: 0.398 · 证据 2 条
- HNRNPD 综合评分: 0.362 · 证据 2 条
- HNRNPK 综合评分: 0.362 · 证据 2 条
- PTBP1 综合评分: 0.362 · 证据 2 条
- HNRNPM 综合评分: 0.350 · 证据 2 条
- NOVA1 综合评分: 0.324 · 证据 2 条
- FUS 综合评分: 0.300 · 证据 1 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- SRSF3 综合评分: 0.300 · 证据 1 条
- SRSF9 综合评分: 0.300 · 证据 1 条
- fus 综合评分: 0.300 · 证据 1 条
- Rnps1 综合评分: 0.260 · 证据 1 条
- RBM10 综合评分: 0.250 · 证据 2 条
- RBM15 综合评分: 0.250 · 证据 2 条
- Tardbp 综合评分: 0.212 · 证据 1 条
- U2af1 综合评分: 0.212 · 证据 1 条
- MBNL2 综合评分: 0.200 · 证据 1 条
- Mbnl2 综合评分: 0.200 · 证据 1 条
🏥 关联疾病
Rolandic epilepsy
中关联 (0.477)
self-limited epilepsy with centrotemporal spikes
中关联 (0.474)
major depressive disorder
中关联 (0.455)
genetic disorder
中关联 (0.451)
obesity
中关联 (0.427)
myopia
中关联 (0.425)
smoking initiation
中关联 (0.411)
bipolar disorder
中关联 (0.409)
attention deficit hyperactivity disorder
低关联 (0.400)
schizophrenia
低关联 (0.392)