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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
PUF60 - Poly(U) Binding Splicing Factor 60
Alias:
FIR
VRJS
RoBPI
SIAHBP1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个核酸结合蛋白,参与多种核内过程,包括预mRNA剪接和转录调控。编码的蛋白与远上游DNA元件(FUSE)和FUSE结合蛋白在髓细胞瘤癌基因(MYC)启动子上形成复合物。这个复合物通过核心-TFIIH基本转录因子抑制MYC的转录。已经观察到了这个基因的替代剪接转录变异体,编码多种异构体。[RefSeq,2012年8月提供]
Related ID:
NCBI:22827
ENSEMBL:ENSG00000179950
HGNC:17042
UNIPROT:Q9UHX1
OMIM:604819
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
22827
19
12
12972 bp
59.88
160
1
5
22
PUF60 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)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
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Cell-specific RNA expression
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Related Mouse Models
Type
Name
MGI
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Status
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Link
No data available
References Literature
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No Data Found!
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