SpliceAtlasDB
← 返回上一页

🧬 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
🏥 关联疾病
neurodegenerative disease
(0.465)
Ewing sarcoma
(0.412)
desmoplastic small round cell tumor
(0.379)
clear cell sarcoma
(0.378)
myoepithelial tumor
(0.377)
🔍 查看该基因的所有关联疾病
🔗 外部数据库链接