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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
ASCC1 - Activating Signal Cointegrator 1 Complex Subunit 1
Alias:
p50
CGI-18
SMABF2
ASC1p50
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码激活信号整合子1(ASC-1)复合物的亚基。ASC-1复合物是一种转录共激活子,在由多种转录因子包括激活蛋白1(AP-1)、核因子kappa-B(NF-kB)和血清响应因子(SRF)进行的基因转激活中发挥着重要作用。编码的蛋白质含有N-末端KH型RNA结合基序,这是ASC-1复合物通过AP-1转激活所必需的。这个基因的突变与巴雷特食管和食管腺癌有关。已经观察到了这个基因的替代剪接转录本,它们编码多种异构体。[RefSeq,2011年12月提供]
Related ID:
NCBI:51008
ENSEMBL:ENSG00000138303
HGNC:24268
UNIPROT:Q8N9N2
OMIM:614215
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
51008
37
10
121103 bp
45.51
142
5
3
13
ASCC1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
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Type
Name
MGI
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Mutations
No data available
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CAS Number
Status
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Link
No data available
References Literature
Title
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IF
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