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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
TBX20 - T-box Transcription Factor 20
Alias:
ASD4
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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T-box家族成员。T-box家族成员共享一个称为T-box的常见DNA结合结构域,它们是参与调控发育过程的转录因子。这个基因对心脏发育是必不可少的。这个基因的突变与多种心脏病理学有关,包括分隔缺陷、瓣膜发生和心肌病。已经发现这个基因的不同剪接转录变异体编码不同的异构体。[由RefSeq,2009年10月提供]
Related ID:
NCBI:57057
ENSEMBL:ENSG00000164532
HGNC:11598
UNIPROT:Q9UMR3
OMIM:606061
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
57057
3
8
51671 bp
49.23
431
5
13
6
TBX20 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
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Transcripts & Proteins
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Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
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Interactions
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Acting
Regulation
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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
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Link
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References Literature
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IF
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