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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
PHF5A - PHD Finger Protein 5A
Alias:
INI
Rds3
SF3B7
SAP14b
SF3b14b
bK223H9.2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码剪接因子3b蛋白复合物的亚基。剪接因子3b与剪接因子3a和12S RNA单元一起形成U2小核核糖核蛋白复合物(U2 snRNP)。剪接因子3b/3a复合物以独立于序列的方式结合在内含子分支位点上游的预mRNA上,并可能将U2 snRNP锚定在预mRNA上。这个基因编码的蛋白质含有PHD手指样结构域,该结构域由高度基本的N端和C端两侧。这个蛋白质属于PHD手指超家族,可能作为染色质关联蛋白发挥作用。这个基因在不同染色体上有几个假基因。[由RefSeq,2008年7月提供]
Related ID:
NCBI:84844
ENSEMBL:ENSG00000100410
HGNC:18000
UNIPROT:Q7RTV0
OMIM:617846
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
84844
1
4
8976 bp
12.40
3
--
3
16
PHF5A 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
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Alphabetical
Cell-specific RNA expression
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Type
Name
MGI
Strain of Origin
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Mutations
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Related Drugs
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CAS Number
Status
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Link
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References Literature
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