🧬 基因注释：PRIMPOL
📝 官方信息
官方名称：primase and DNA directed polymerase
功能摘要：This gene encodes a DNA primase-polymerase that belongs to a superfamily of archaeao-eukaryotic primases. Members of this family have primase activity, catalyzing the synthesis of short RNA primers that serve as starting points for DNA synthesis, as well as DNA polymerase activity. The encoded protein facilitates DNA damage tolerance by mediating uninterrupted fork progression after UV irradiation and reinitiating DNA synthesis. An allelic variant in this gene is associated with myopia 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.474 · 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
- PTBP1 综合评分: 0.362 · 证据 2 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- HNRNPK 综合评分: 0.300 · 证据 2 条
- KHSRP 综合评分: 0.300 · 证据 2 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- PRPF8 综合评分: 0.298 · 证据 1 条
- Tardbp 综合评分: 0.274 · 证据 1 条
- PCBP2 综合评分: 0.262 · 证据 1 条
- EWSR1 综合评分: 0.250 · 证据 2 条
- RBM10 综合评分: 0.250 · 证据 2 条
- RBM15 综合评分: 0.250 · 证据 2 条
- U2af1 综合评分: 0.212 · 证据 1 条
- U2af2 综合评分: 0.198 · 证据 1 条
- EIF4A3 综合评分: 0.162 · 证据 2 条
- Rnps1 综合评分: 0.162 · 证据 1 条
- CPSF4 综合评分: 0.150 · 证据 2 条
- CPSF7 综合评分: 0.150 · 证据 2 条
🏥 关联疾病
该基因暂无关联疾病记录