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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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人类
RIGI - RNA Sensor RIG-I
Alias:
RIG1
DDX58
RIG-I
RLR-1
SGMRT2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
DEAD盒蛋白,以其保守基序Asp-Glu-Ala-Asp(DEAD)为特征,是推测的RNA解旋酶,参与许多涉及RNA结合和RNA二级结构改变的细胞过程。该基因编码一个包含RNA解旋酶-DEAD盒蛋白基序和胱天蛋白酶招募结构域(CARD)的蛋白质。它参与病毒双链(ds)RNA的识别和抗病毒先天免疫应答的调节。该基因的突变与Singleton-Merten综合征2有关。[RefSeq,2020年8月提供]
Related ID:
NCBI:23586
ENSEMBL:ENSG00000107201
HGNC:19102
UNIPROT:O95786
OMIM:609631
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23586
7
18
70895 bp
106.60
388
2
8
73
RIGI Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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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
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Cell-specific RNA expression
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Type
Name
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Mutations
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Status
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References Literature
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