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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
TP53BP1 - Tumor Protein P53 Binding Protein 1
Alias:
p202
53BP1
TDRD30
p53BP1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个在DNA双链断裂修复途径中发挥作用蛋白质,促进非同源末端连接(NHEJ)途径,并限制同源重组。这个蛋白质在DNA损伤反应中扮演多个角色,包括在DNA损伤后促进检查点信号传导,作为将DNA损伤响应蛋白质招募到受损染色质的支架,并通过限制双链断裂后的末端切除来促进NHEJ途径。这些角色在V(D)J重组、类切换重组和未受保护的端粒中也非常重要。可变剪接导致多个转录变异体,编码不同的异构体。[由RefSeq,2017年8月提供]
Related ID:
NCBI:7158
ENSEMBL:ENSG00000067369
HGNC:11999
UNIPROT:Q12888
OMIM:605230
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7158
10
28
107580 bp
213.57
124
2
15
51
TP53BP1 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
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Cell-specific RNA expression
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Type
Name
MGI
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CAS Number
Status
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Link
No data available
References Literature
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