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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
ARID1B - AT-rich Interaction Domain 1B
Alias:
CSS1
OSA2
6A3-5
DAN15
MRD12
P250R
BRIGHT
BAF250B
SMARCF2
ELD/OSA1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因座编码一个富含AT的DNA相互作用结构域含有蛋白质。编码的蛋白质是SWI/SNF染色质重塑复合物的组成部分,可能参与细胞周期的激活。这个基因座编码的蛋白质与富含AT的相互作用结构域含有蛋白质1A相似。这两个蛋白质作为SWI/SNF复合物的替代、相互排斥的ARID亚基发挥作用。相关的复合物发挥相反的作用。选择性剪接导致多个转录变异体。[RefSeq,2016年10月提供]
Related ID:
NCBI:57492
ENSEMBL:ENSG00000049618
HGNC:18040
UNIPROT:Q8NFD5
OMIM:614556
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
57492
37
20
434754 bp
243.94
1698
14
10
29
ARID1B 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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Link
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References Literature
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