🧬 基因注释：SF3B4
📝 官方信息
官方名称：splicing factor 3b subunit 4
功能摘要：This gene encodes one of four subunits of the splicing factor 3B. The protein encoded by this gene cross-links to a region in the pre-mRNA immediately upstream of the branchpoint sequence in pre-mRNA in the prespliceosomal complex A. It also may be involved in the assembly of the B, C and E spliceosomal complexes. In addition to RNA-binding activity, this protein interacts directly and highly specifically with subunit 2 of the splicing factor 3B. This protein contains two N-terminal RNA-recognition motifs (RRMs), consistent with the observation that it binds directly to pre-mRNA. [provided by RefSeq, Jul 2008].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.510 · 证据 2 条
- HNRNPK 综合评分: 0.460 · 证据 2 条
- PTBP1 综合评分: 0.424 · 证据 2 条
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- FUS 综合评分: 0.398 · 证据 1 条
- fus 综合评分: 0.398 · 证据 1 条
- Tardbp 综合评分: 0.372 · 证据 1 条
- SRSF2 综合评分: 0.362 · 证据 1 条
- SRSF9 综合评分: 0.362 · 证据 1 条
- PCBP2 综合评分: 0.360 · 证据 1 条
- HNRNPH1 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- Rnps1 综合评分: 0.342 · 证据 1 条
- RBM10 综合评分: 0.312 · 证据 2 条
- U2af1 综合评分: 0.310 · 证据 1 条
- HNRNPL 综合评分: 0.300 · 证据 2 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- SRSF3 综合评分: 0.300 · 证据 1 条
- Srsf2 综合评分: 0.300 · 证据 1 条
- Srsf3 综合评分: 0.300 · 证据 1 条
🏥 关联疾病
Nager syndrome
高关联 (0.739)
Nager acrofacial dysostosis
高关联 (0.733)
genetic disorder
中关联 (0.518)
neurodegenerative disease
中关联 (0.456)
SF3B4-related acrofacial dysostosis
低关联 (0.399)
acrofacial dysostosis Rodriguez type
低关联 (0.370)
Acrofacial dysostosis, Rodríguez type
低关联 (0.370)
dengue disease
低关联 (0.370)
type 2 diabetes mellitus
低关联 (0.300)
Metaphyseal chondrodysplasia, Schmid type
低关联 (0.118)