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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
WT1 - WT1 Transcription Factor
Alias:
GUD
AWT1
WAGR
WT-1
WT33
NPHS4
WIT-2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个转录因子,其C端含有四个锌指结构,N端有一个富含脯氨酸/谷氨酰胺的DNA结合结构域。它在泌尿生殖系统的正常发育中具有重要作用,并在一小部分Wilms瘤患者中发生突变。这个基因在不同组织中表现出复杂的组织特异性的印记模式,从母源和父源等位基因中以双等位和单等位表达。已经描述了多种转录变异体。在几种变异体中,有证据表明使用了非AUG (CUG) 翻译起始密码子,位于第一个AUG上游且与其在帧内。PMID:7926762的作者还提供了证据表明,WT1 mRNA在人类和大鼠中经历RNA编辑,并且这个过程是组织特异性的并受发育调节。[RefSeq,2015年3月提供]
Related ID:
NCBI:7490
ENSEMBL:ENSG00000184937
HGNC:12796
UNIPROT:P19544
OMIM:607102
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7490
14
10
47765 bp
49.19
1344
15
21
54
WT1 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
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Cell-specific RNA expression
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Acting
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Type
Name
MGI
Strain of Origin
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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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