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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
CPXCR1 - CPX Chromosome Region Candidate 1
Alias:
CT77
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是X染色体上与X连锁腭裂(CPX)疾病相关的一个区域中识别出的几个基因之一。编码的蛋白质含有与锌指蛋白中发现的基序相似的基序。对这个基因的突变分析还没有发现任何导致CPX疾病的突变。已经识别出多种可变剪接变异体,它们编码相同的蛋白质。[RefSeq,2011年9月提供]
Related ID:
NCBI:53336
ENSEMBL:ENSG00000147183
HGNC:2332
UNIPROT:Q8N123
OMIM:301055
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
53336
2
3
7557 bp
34.73
15
--
2
4
CPXCR1 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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Abundance
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Interactions
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Regulation
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Residues
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Score
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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
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IF
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