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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
CCNQ - Cyclin Q
Alias:
CycM
FAM58A
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这种基因的突变已被证明会导致一种典型的表现为并指、远眼角膜突出和生殖器及肾脏畸形的X连锁显性STAR综合征。该基因编码的蛋白质包含一个细胞周期蛋白盒折叠结构域,这表明它可能具有控制核细胞分裂周期的作用。可变剪接导致多种转录变异体,它们编码不同的异构体。[由RefSeq,2008年10月提供]
Related ID:
NCBI:92002
ENSEMBL:ENSG00000262919
HGNC:28434
UNIPROT:Q8N1B3
OMIM:300708
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
92002
4
5
11215 bp
28.37
49
1
3
5
CCNQ 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
Organ
Abundance
Alphabetical
Interactions
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Acting
Regulation
Detail
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Target
Residues
Reference
Score
No data available
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
PMID
Journal
Year
IF
No Data Found!
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