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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
CELF1 - CUGBP Elav-like Family Member 1
Alias:
CUGBP
NAB50
NAPOR
CUG-BP
CUGBP1
hNab50
BRUNOL2
EDEN-BP
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
CELF/BRUNOL家族成员包含两个N-端RNA识别基序(RRM)结构域,一个C-端RRM结构域,以及第二个和第三个RRM结构域之间的160-230个氨基酸的分歧段。这个蛋白质家族成员调节前mRNA可变剪接,也可能参与mRNA编辑和翻译。这个基因可能与肌营养不良1型(DM1)的相互作用有关,通过与肌营养不良-肌质蛋白激酶(DMPK)基因相互作用。可变剪接导致多个转录变异体,编码不同的异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:10658
ENSEMBL:ENSG00000149187
HGNC:2549
UNIPROT:Q92879
OMIM:601074
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10658
121
15
99603 bp
52.06
12
--
6
25
CELF1 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
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Type
Name
MGI
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Mutations
No data available
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Name
CAS Number
Status
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Link
No data available
References Literature
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IF
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