🧬 基因注释：RTEL1
📝 官方信息
官方名称：regulator of telomere elongation helicase 1
功能摘要：This gene encodes a DNA helicase which functions in the stability, protection and elongation of telomeres and interacts with proteins in the shelterin complex known to protect telomeres during DNA replication. Mutations in this gene have been associated with dyskeratosis congenita and Hoyerall-Hreidarsson syndrome. Read-through transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor superfamily, member 6b, generates a non-coding transcript. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013].
🎯 作为靶基因的剪接因子
- HNRNPM 综合评分: 0.474 · 证据 2 条
- HNRNPK 综合评分: 0.444 · 证据 2 条
- HNRNPL 综合评分: 0.398 · 证据 2 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- HNRNPC 综合评分: 0.350 · 证据 2 条
- HNRNPH1 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- QKI 综合评分: 0.350 · 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
- Tardbp 综合评分: 0.310 · 证据 1 条
- KHSRP 综合评分: 0.300 · 证据 2 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- SRSF9 综合评分: 0.300 · 证据 1 条
- NOVA1 综合评分: 0.298 · 证据 2 条
- CELF2 综合评分: 0.274 · 证据 2 条
- EWSR1 综合评分: 0.250 · 证据 2 条
- TIA1 综合评分: 0.250 · 证据 1 条
- Rbmx 综合评分: 0.224 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录