🧬 基因注释：BBS1
📝 官方信息
官方名称：Bardet-Biedl syndrome 1
功能摘要：Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008].
🎯 作为靶基因的剪接因子
- CPSF6 置信度: 2.0
- CSTF2 置信度: 2.0
- CSTF2T 置信度: 2.0
- EIF4A3 置信度: 2.0
- EWSR1 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPK 置信度: 2.0
- HNRNPU 置信度: 2.0
- NOVA1 置信度: 2.0
- PTBP1 置信度: 2.0
- RBM10 置信度: 2.0
- RBM15 置信度: 2.0
- AQR 置信度: 1.0
- CPSF1 置信度: 1.0
- CPSF2 置信度: 1.0
- ELAVL3 置信度: 1.0
- FUS 置信度: 1.0
- NUMA1 置信度: 1.0
- PCBP2 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录