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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
PWP1 - PWP1 Homolog, Endonuclein
Alias:
NCLB
IEF-SSP-9502
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质含有几个WD-40重复序列,主要位于细胞核中。这个蛋白质的表达和定位取决于细胞周期的阶段。这个基因在胰腺癌中的表达上调。已经发现这个基因有三个转录变异体,编码不同的异构体。[由RefSeq提供,2015年12月]
Related ID:
NCBI:11137
ENSEMBL:ENSG00000136045
HGNC:17015
UNIPROT:Q13610
OMIM:620055
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
11137
3
15
27364 bp
55.83
10
--
3
15
PWP1 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
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Cell-specific RNA expression
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Type
Name
MGI
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Mutations
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CAS Number
Status
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Link
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References Literature
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