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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
SF3B4 - Splicing Factor 3b Subunit 4
Alias:
AFD1
Hsh49
SAP49
SF3b49
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码四个剪接因子3B中的一个亚基。这个基因编码的蛋白质与前mRNA中的分支点序列上游区域在预剪接复合体A中交叉连接。它也可能参与B、C和E剪接复合体的组装。除了具有RNA结合活性外,这个蛋白质还与剪接因子3B的亚基2直接高度特异地相互作用。这个蛋白质包含两个N-末端RNA识别基序(RRMs),这与它直接结合前mRNA的观察结果一致。[由RefSeq提供,2008年7月]
Related ID:
NCBI:10262
ENSEMBL:ENSG00000143368
HGNC:10771
UNIPROT:Q15427
OMIM:605593
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10262
1
6
4487 bp
44.39
92
2
6
20
SF3B4 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
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Cell-specific RNA expression
Organ
Abundance
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Related Mouse Models
Type
Name
MGI
Strain of Origin
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Mutations
No data available
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Name
CAS Number
Status
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Link
No data available
References Literature
Title
PMID
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IF
No Data Found!
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