SpliceAtlasDB
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🧬 基因注释:DHX30

📝 官方信息

官方名称:DExH-box helicase 30

功能摘要:DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The family member encoded by this gene is a mitochondrial nucleoid protein that associates with mitochondrial DNA. It has also been identified as a component of a transcriptional repressor complex that functions in retinal development, and it is required to optimize the function of the zinc-finger antiviral protein. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013].

🎯 作为靶基因的剪接因子
  • HNRNPC 综合评分: 0.474 · 证据 2 条
  • PTBP1 综合评分: 0.362 · 证据 2 条
  • RBFOX2 综合评分: 0.362 · 证据 2 条
  • SRSF9 综合评分: 0.362 · 证据 1 条
  • HNRNPA1 综合评分: 0.350 · 证据 2 条
  • HNRNPA2B1 综合评分: 0.350 · 证据 2 条
  • HNRNPH1 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
  • TIA1 综合评分: 0.312 · 证据 1 条
  • FUS 综合评分: 0.300 · 证据 1 条
  • HNRNPK 综合评分: 0.300 · 证据 2 条
  • HNRNPU 综合评分: 0.300 · 证据 2 条
  • KHSRP 综合评分: 0.300 · 证据 2 条
  • SRSF3 综合评分: 0.300 · 证据 1 条
  • Srsf3 综合评分: 0.300 · 证据 1 条
  • fus 综合评分: 0.300 · 证据 1 条
  • PCBP2 综合评分: 0.298 · 证据 1 条
  • Srsf1 综合评分: 0.294 · 证据 1 条
  • Ptbp2 综合评分: 0.262 · 证据 1 条
🏥 关联疾病
neurodevelopmental disorder with severe motor impairment and absent language
高关联 (0.801)
neurodegenerative disease
中关联 (0.515)
genetic disorder
中关联 (0.486)
Neurodevelopmental disorder
中关联 (0.467)
microcephaly
中关联 (0.460)
Global developmental delay
中关联 (0.424)
Strabismus
中关联 (0.423)
Short stature
中关联 (0.416)
Intellectual disability
低关联 (0.399)
Delayed speech and language development
低关联 (0.340)
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