基因名称：EWSR1 （EWS RNA binding protein 1）
别名： EWS,EWS-FLI1,bK984G1.4
基因ID：2130
Chromosome(GRCh37) ：22 Start: 29663998 End: 29696515 Strand: 1
信号通路： DNA修饰及其它
基因组不稳定
靶向药： 舒尼替尼
化疗药：
简介：该基因编码一种多功能蛋白，参与多种细胞过程，包括基因表达、细胞信号传导、RNA加工和转运。该蛋白包括一个N末端转录激活域和一个C末端RNA结合域。该基因与编码转录因子的各种基因之间的染色体易位导致参与肿瘤发生的嵌合蛋白的产生。这些嵌合蛋白通常由该蛋白的N末端转录激活域与转录因子蛋白的C末端DNA结合域融合而成。该基因的突变，特别是t（11；22）（q24；q12）易位，已知可引起尤因肉瘤、神经外胚层和各种其他肿瘤。这种基因的选择性剪接导致多种转录变异。在1号和14号染色体上发现了相关的假基因。
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.
EWSR1突变与药物：
EWSR1-FLI1
药物：
Ziv-阿柏西普
疾病：
骨尤文氏肉瘤
EWSR1-NR4A3
药物：
舒尼替尼
疾病：
骨外黏液样软骨肉瘤
