SpliceAtlasDB
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🧬 基因注释:DDX3X

📝 官方信息

官方名称:DEAD-box helicase 3 X-linked

功能摘要:The protein encoded by this gene is a member of the large DEAD-box protein family, that is defined by the presence of the conserved Asp-Glu-Ala-Asp (DEAD) motif, and has ATP-dependent RNA helicase activity. This protein has been reported to display a high level of RNA-independent ATPase activity, and unlike most DEAD-box helicases, the ATPase activity is thought to be stimulated by both RNA and DNA. This protein has multiple conserved domains and is thought to play roles in both the nucleus and cytoplasm. Nuclear roles include transcriptional regulation, mRNP assembly, pre-mRNA splicing, and mRNA export. In the cytoplasm, this protein is thought to be involved in translation, cellular signaling, and viral replication. Misregulation of this gene has been implicated in tumorigenesis. This gene has a paralog located in the nonrecombining region of the Y chromosome. Pseudogenes sharing similarity to both this gene and the DDX3Y paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014].

🎯 作为靶基因的剪接因子
  • RBFOX2 综合评分: 0.496 · 证据 2 条
  • HNRNPH1 综合评分: 0.448 · 证据 2 条
  • HNRNPA2B1 综合评分: 0.412 · 证据 2 条
  • HNRNPC 综合评分: 0.412 · 证据 2 条
  • HNRNPM 综合评分: 0.412 · 证据 2 条
  • HNRNPU 综合评分: 0.398 · 证据 2 条
  • TIA1 综合评分: 0.374 · 证据 1 条
  • KHSRP 综合评分: 0.362 · 证据 2 条
  • Srsf2 综合评分: 0.362 · 证据 1 条
  • HNRNPA1 综合评分: 0.350 · 证据 2 条
  • HNRNPF 综合评分: 0.350 · 证据 2 条
  • MBNL1 综合评分: 0.350 · 证据 2 条
  • CELF2 综合评分: 0.346 · 证据 2 条
  • PRPF8 综合评分: 0.324 · 证据 1 条
  • FUBP1 综合评分: 0.312 · 证据 2 条
  • RBM10 综合评分: 0.312 · 证据 2 条
  • FUS 综合评分: 0.300 · 证据 1 条
  • HNRNPD 综合评分: 0.300 · 证据 2 条
  • HNRNPK 综合评分: 0.300 · 证据 2 条
  • HNRNPL 综合评分: 0.300 · 证据 2 条
🏥 关联疾病
X-linked non-syndromic intellectual disability
高关联 (0.836)
X-linked intellectual disability-hypotonia-movement disorder syndrome
中关联 (0.667)
medulloblastoma
中关联 (0.663)
Intellectual disability
中关联 (0.632)
genetic disorder
中关联 (0.553)
Burkitts lymphoma
中关联 (0.499)
melanoma
中关联 (0.475)
ebv-positive nodal t- and nk-cell lymphoma
中关联 (0.474)
Neurodevelopmental disorder
中关联 (0.471)
neurodegenerative disease
中关联 (0.463)
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