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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
DNAAF5 - Dynein Axonemal Assembly Factor 5
Alias:
CILD18
HEATR2
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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对轴突动力臂的预组装或稳定性是必需的,并且仅在具有可移动纤毛和鞭毛的生物体中发现。这个基因的突变与原发性纤毛运动障碍18有关,这是一种以可移动纤毛异常为特征的疾病。已经发现这个基因的替代剪接转录变异体。[RefSeq,2013年2月提供]
Related ID:
NCBI:54919
ENSEMBL:ENSG00000164818
HGNC:26013
UNIPROT:Q86Y56
OMIM:614864
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
54919
2
13
59777 bp
93.52
583
2
6
10
DNAAF5 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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Interactions
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Acting
Regulation
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Residues
Reference
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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Journal
Year
IF
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