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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
RFX1 - Regulatory Factor X1
Alias:
EFC
RFX
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个属于调节因子X(RFX)家族的转录因子成员,该家族的特征是具有翼状螺旋DNA结合域。编码的转录因子包含一个N-端激活结构和一个C-端抑制结构,可以根据细胞背景激活或抑制靶基因表达。这个转录因子已被证明可以调节参与免疫和癌症的多种基因,包括MHC类II基因和可能涉及癌症进展的基因。这个基因在胶质母细胞瘤和自身免疫性疾病系统性红斑狼疮(SLE)中的表达发生改变。[由RefSeq,2016年7月提供]
Related ID:
NCBI:5989
ENSEMBL:ENSG00000132005
HGNC:9982
UNIPROT:P22670
OMIM:600006
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5989
9
21
45287 bp
104.76
61
--
5
15
RFX1 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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Acting
Regulation
Detail
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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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