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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
RBPJ - Recombination Signal Binding Protein For Immunoglobulin Kappa J Region
Alias:
SUH
csl
AOS3
CBF1
KBF2
CBF-1
RBP-J
RBPJK
IGKJRB
RBP-JK
RBPSUH
IGKJRB1
RBP-J kappa
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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Notch信号通路中重要的转录调节因子。当不与Notch蛋白质结合时,编码的蛋白质起抑制因子作用,而当与Notch蛋白质结合时,起激活因子作用。人们认为它通过招募含有组蛋白去乙酰化酶或组蛋白乙酰化酶的染色质重塑复合物到Notch信号通路基因上发挥作用。已发现这个基因的几个转录变异体,编码不同的异构体,并且在染色体9上存在这个基因的几个假基因。[RefSeq,2013年10月提供]
Related ID:
NCBI:3516
ENSEMBL:ENSG00000168214
HGNC:5724
UNIPROT:Q06330
OMIM:147183
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3516
18
11
329683 bp
55.64
150
2
13
19
RBPJ 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
Alphabetical
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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