🧬 基因注释：VPS26C
📝 官方信息
官方名称：VPS26 endosomal protein sorting factor C
功能摘要：The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and cognitive disability. The DSCR3 (Down syndrome critical region gene 3) gene is found in this region and is predictated to contain eight exons. DSCR3 is expressed in most tissues examined. [provided by RefSeq, Jul 2008].
🎯 作为靶基因的剪接因子
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- FUS 综合评分: 0.398 · 证据 1 条
- HNRNPK 综合评分: 0.398 · 证据 2 条
- fus 综合评分: 0.398 · 证据 1 条
- HNRNPC 综合评分: 0.350 · 证据 2 条
- HNRNPM 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- HNRNPU 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
- Srsf1 综合评分: 0.294 · 证据 1 条
- U2af2 综合评分: 0.260 · 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
- TIA1 综合评分: 0.250 · 证据 1 条
- GRSF1 综合评分: 0.248 · 证据 2 条
- UPF1 综合评分: 0.224 · 证据 1 条
- AQR 综合评分: 0.212 · 证据 1 条
- PRPF4 综合评分: 0.212 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录