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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
TP53 - Tumor Protein P53
Alias:
P53
BCC7
LFS1
BMFS5
TRP53
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个含有转录激活、DNA结合和寡聚域的肿瘤抑制蛋白。编码的蛋白质响应多种细胞应激来调节目标基因的表达,从而诱导细胞周期停滞、凋亡、衰老、DNA修复或代谢变化。这个基因的突变与各种人类癌症有关,包括遗传性癌症如Li-Fraumeni综合征。这个基因的可变剪接和使用替代启动子导致多个转录变异体和异构体的产生。其他异构体也已被证明是由来自相同转录变异体的替代翻译起始密码子产生的(PMIDs: 12032546, 20937277)。[由RefSeq提供,2016年12月]
Related ID:
NCBI:7157
ENSEMBL:ENSG00000141510
HGNC:11998
UNIPROT:P04637
OMIM:191170
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7157
25
11
19070 bp
43.65
2900
65
124
216
TP53 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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Regulation
Detail
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Residues
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
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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