SpliceAtlasDB
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🧬 基因注释:EWSR1

📝 官方信息

官方名称:EWS RNA binding protein 1

功能摘要:This gene encodes a multifunctional protein that is involved in various cellular processes, including gene expression, cell signaling, and RNA processing and transport. The protein includes an N-terminal transcriptional activation domain and a C-terminal RNA-binding domain. Chromosomal translocations between this gene and various genes encoding transcription factors result in the production of chimeric proteins that are involved in tumorigenesis. These chimeric proteins usually consist of the N-terminal transcriptional activation domain of this protein fused to the C-terminal DNA-binding domain of the transcription factor protein. Mutations in this gene, specifically a t(11;22)(q24;q12) translocation, are known to cause Ewing sarcoma as well as neuroectodermal and various other tumors. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1 and 14. [provided by RefSeq, Jul 2009].

🎯 作为靶基因的剪接因子
  • HNRNPC 综合评分: 0.510 · 证据 2 条
  • HNRNPA2B1 综合评分: 0.412 · 证据 2 条
  • HNRNPH1 综合评分: 0.412 · 证据 2 条
  • HNRNPM 综合评分: 0.412 · 证据 2 条
  • SRSF2 综合评分: 0.398 · 证据 1 条
  • Srsf2 综合评分: 0.398 · 证据 1 条
  • FUS 综合评分: 0.362 · 证据 1 条
  • HNRNPD 综合评分: 0.362 · 证据 2 条
  • HNRNPK 综合评分: 0.362 · 证据 2 条
  • KHSRP 综合评分: 0.362 · 证据 2 条
  • RBFOX2 综合评分: 0.362 · 证据 2 条
  • fus 综合评分: 0.362 · 证据 1 条
  • HNRNPA1 综合评分: 0.350 · 证据 2 条
  • QKI 综合评分: 0.350 · 证据 1 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
  • RBM22 综合评分: 0.312 · 证据 2 条
  • TIA1 综合评分: 0.312 · 证据 1 条
  • HNRNPL 综合评分: 0.300 · 证据 2 条
🏥 关联疾病
neurodegenerative disease
中关联 (0.465)
Ewing sarcoma
中关联 (0.412)
desmoplastic small round cell tumor
低关联 (0.379)
clear cell sarcoma
低关联 (0.378)
myoepithelial tumor
低关联 (0.377)
synovial sarcoma
低关联 (0.377)
extraskeletal myxoid chondrosarcoma
低关联 (0.376)
rhabdomyosarcoma
低关联 (0.375)
myxoid chondrosarcoma
低关联 (0.375)
Ewing sarcoma/peripheral primitive neuroectodermal tumor
低关联 (0.375)
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