🧬 基因注释：SPRTN
📝 官方信息
官方名称：SprT-like N-terminal domain
功能摘要：The protein encoded by this gene may play a role in DNA repair during replication of damaged DNA. This protein recruits valosin containing protein (p97) to stalled DNA replication forks where it may prevent excessive translesional DNA synthesis and limit the number of DNA-damage induced mutations. It may also be involved in replication-related G2/M-checkpoint regulation. Deficiency of a similar protein in mouse causes chromosomal instability and progeroid phenotypes. Mutations in this gene have been associated with Ruijs-Aalfs syndrome (RJALS). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.494 · 证据 2 条
- HNRNPD 综合评分: 0.398 · 证据 2 条
- RBFOX2 综合评分: 0.362 · 证据 2 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- Tardbp 综合评分: 0.336 · 证据 1 条
- RBM10 综合评分: 0.312 · 证据 2 条
- RBM15 综合评分: 0.312 · 证据 2 条
- TIA1 综合评分: 0.312 · 证据 1 条
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- KHSRP 综合评分: 0.300 · 证据 2 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- fus 综合评分: 0.300 · 证据 1 条
- PRPF8 综合评分: 0.262 · 证据 1 条
- EWSR1 综合评分: 0.250 · 证据 2 条
- FUBP1 综合评分: 0.250 · 证据 2 条
- ELAVL3 综合评分: 0.224 · 证据 1 条
- CPSF6 综合评分: 0.212 · 证据 2 条
- U2af1 综合评分: 0.212 · 证据 1 条
- PCBP2 综合评分: 0.200 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录