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🧬 基因注释:WDR19

📝 官方信息

官方名称:WD repeat domain 19

功能摘要:The protein encoded by this gene is a member of the WD (tryptophan-aspartic acid) repeat family, which is a large family of structurally-related proteins known to participate in a wide range of cellular processes. Each WD repeat typically contains about 40 amino acids that are usually bracketed by glycine-histidine and tryptophan-aspartic acid (WD) dipeptides. This protein contains six WD repeats, three transmembrane domains, and a clathrin heavy-chain repeat. Mutations in this gene have been described in individuals with a wide range of disorders affecting function of the cilium. These disorders are known as ciliopathies, and include Jeune syndrome, Sensenbrenner syndromes, Senior-Loken syndrome, combined or isolated nephronophthisis (NPHP), and retinitis pigmentosa (RP). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015].

🎯 作为靶基因的剪接因子
  • HNRNPC 综合评分: 0.412 · 证据 2 条
  • HNRNPA2B1 综合评分: 0.350 · 证据 2 条
  • FUS 综合评分: 0.300 · 证据 1 条
  • PTBP1 综合评分: 0.300 · 证据 2 条
  • RBFOX2 综合评分: 0.300 · 证据 2 条
  • fus 综合评分: 0.300 · 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
  • CPSF6 综合评分: 0.212 · 证据 2 条
  • PRPF8 综合评分: 0.200 · 证据 1 条
  • SF3A3 综合评分: 0.200 · 证据 1 条
  • ELAVL3 综合评分: 0.198 · 证据 1 条
  • U2af2 综合评分: 0.162 · 证据 1 条
  • CSTF2 综合评分: 0.150 · 证据 2 条
  • Tardbp 综合评分: 0.150 · 证据 1 条
  • U2af1 综合评分: 0.150 · 证据 1 条
  • CSTF2T 综合评分: 0.100 · 证据 2 条
  • EIF4A3 综合评分: 0.100 · 证据 2 条
  • RBM20 综合评分: 0.100 · 证据 2 条
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