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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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HNF1A - HNF1 Homeobox A
Alias:
HNF1
LFB1
TCF1
HNF4A
MODY3
TCF-1
HNF-1A
IDDM20
HNF1alpha
HNF-1-alpha
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是一种转录因子,是几个肝脏特异性的基因表达所必需的。编码的蛋白质作为同源二聚体,并与反向重复序列5'-GTTAATNATTAAC-3'结合。这个基因的缺陷是导致青年晚期糖尿病3型(MODY3)的原因,并且也可能导致肝脏腺瘤的出现。可变剪接产生了多种转录本变异体,编码不同的异构体。[由RefSeq,2015年4月提供]
Related ID:
NCBI:6927
ENSEMBL:ENSG00000135100
HGNC:11621
UNIPROT:P20823
OMIM:142410
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6927
4
10
23970 bp
67.36
805
13
9
34
HNF1A 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
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Interactions
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Acting
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Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
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Name
CAS Number
Status
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Link
No data available
References Literature
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Journal
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IF
No Data Found!
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