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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
RIOK3 - RIO Kinase 3
Alias:
SUDD
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因最初因其产物与Aspergillus nidulans SUDD蛋白的相似性而被识别。现在人们认为这个基因是right open reading frame (RIO)激酶基因家族的成员。这个基因编码一个定位在细胞质中的丝氨酸/苏氨酸激酶,并在处理预-40 S核糖体亚基中发挥作用。可变剪接导致多个转录变异体。[RefSeq, 2017年1月提供]
Related ID:
NCBI:8780
ENSEMBL:ENSG00000101782
HGNC:11451
UNIPROT:O14730
OMIM:603579
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8780
5
13
29854 bp
59.09
15
--
8
14
RIOK3 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)
Exon Count
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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Interactions
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Acting
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Score
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
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