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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
GTF2I - General Transcription Factor IIi
Alias:
WBS
DIWS
SPIN
IB291
BAP135
BTKAP1
TFII-I
WBSCR6
GTFII-I
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个包含六个特征重复基序的磷酸蛋白。编码的蛋白质结合启动子中的起始子元件(Inr)和E-盒元件,并作为转录调节因子发挥作用。这个基因座以及几个其他相邻的基因在威廉斯-伯伦综合征中缺失。染色体7上有许多与该基因密切相关的基因和假基因。这个基因在染色体9、13和21上也有假基因。已经观察到了编码多种异型的可变剪接转录本。[RefSeq,2013年7月提供]
Related ID:
NCBI:2969
ENSEMBL:ENSG00000263001
HGNC:4659
UNIPROT:P78347
OMIM:601679
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2969
6
35
102975 bp
112.42
12
1
14
33
GTF2I 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
Reset
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
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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