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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
PSPC1 - Paraspeckle Component 1
Alias:
PSP1
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Description
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个定位在核仁蛋白,该蛋白位于靠近剪接斑点(称为旁斑点)的亚核结构中。旁斑点由包括非编码RNA NEAT1/Men epsilon/beta和果蝇行为人类剪接家族蛋白质(包括这个基因的产物以及P54NRB/NONO和PSF/SFPQ蛋白质)的RNA-蛋白质结构组成。旁斑点可能通过RNA核保留机制参与基因表达的调控。这个基因编码的蛋白质在转录活跃的细胞中的旁斑点中发现,但在RNA聚合酶II转录被抑制或在末期,它定位在核仁边缘的独特帽状结构上。这个基因的可变剪接导致多个转录变异体。已经发现了一个相关的假基因,也位于染色体13上。[RefSeq,2011年8月提供]
Related ID:
NCBI:55269
ENSEMBL:ENSG00000121390
HGNC:20320
UNIPROT:Q8WXF1
OMIM:612408
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55269
9
9
111741 bp
58.74
18
--
5
15
PSPC1 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)
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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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Interactions
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Related Mouse Models
Type
Name
MGI
Strain of Origin
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Mutations
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Name
CAS Number
Status
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Link
No data available
References Literature
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Year
IF
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