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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
EWSR1 - EWS RNA Binding Protein 1
Alias:
EWS
EWS-FLI1
bK984G1.4
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种参与各种细胞过程的多功能蛋白质,包括基因表达、细胞信号传导和RNA加工和运输。该蛋白质包括一个N端转录激活结构和一个C端RNA结合结构域。这个基因与各种编码转录因子的基因之间的染色体易位导致产生参与肿瘤发生的嵌合蛋白质。这些嵌合蛋白质通常由这个蛋白质的N端转录激活结构域与转录因子蛋白质的C端DNA结合结构域融合而成。这个基因的突变,尤其是t(11;22)(q24;q12)易位,已知会导致尤文氏肉瘤以及神经外胚层肿瘤和各种其他肿瘤。这个基因的可变剪接导致多个转录变异体。相关的假基因在染色体1和14上被鉴定。[由RefSeq,2009年7月提供]
Related ID:
NCBI:2130
ENSEMBL:ENSG00000182944
HGNC:3508
UNIPROT:Q01844
OMIM:133450
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2130
52
17
32254 bp
68.48
40
6
11
30
EWSR1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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