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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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ATRIP - ATR Interacting Protein
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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DNA损伤检查点的关键成分。编码的蛋白质与覆盖有复制蛋白A的单链DNA结合。该蛋白质还与ataxia telangiectasia和Rad3相关蛋白激酶相互作用,导致其因DNA损伤而积累在核内焦点处。已发现这个基因有多个编码不同异型的转录变异体。[RefSeq,2012年8月提供]
Related ID:
NCBI:84126
ENSEMBL:ENSG00000164053
HGNC:33499
UNIPROT:Q8WXE1
OMIM:606605
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
84126
4
13
20909 bp
85.84
564
7
1
9
ATRIP 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
Organ
Abundance
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Interactions
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Acting
Regulation
Detail
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Reference
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
Title
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IF
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