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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
SF1 - Splicing Factor 1
Alias:
BBP
MBBP
ZFM1
ZNF162
D11S636
ZCCHC25
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个核前mRNA剪接因子。编码的蛋白质特异性地识别3'剪接位点的内含子分支点序列,与U2辅助因子(U2AF)的大亚基一起,并在剪接体组装的早期阶段是必需的。它还在核前mRNA保留和转录抑制中发挥作用。编码的蛋白质包含一个N-末端U2AF配体基序,一个结合分支点序列内关键分支腺苷的中央hnRNP K同源基序和quaking 2区域,一个锌指结构域,和一个C-末端富含脯氨酸的结构域。可变剪接产生多种转录变异体。[由RefSeq,2016年10月提供]
Related ID:
NCBI:7536
ENSEMBL:ENSG00000168066
HGNC:12950
UNIPROT:Q15637
OMIM:601516
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7536
18
13
13937 bp
68.33
29
--
4
27
SF1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Type
Name
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CAS Number
Status
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Link
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References Literature
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Journal
Year
IF
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