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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
CYLD - CYLD Lysine 63 Deubiquitinase
Alias:
EAC
MFT
SBS
TEM
BRSS
CDMT
MFT1
CYLD1
CYLDI
USPL2
FTDALS8
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个具有三个细胞骨架相关蛋白-甘氨酸保守结构域的胞质蛋白,作为去泛素酶发挥作用。这个基因的突变与圆柱瘤病、多发性家族性毛囊瘤和Brooke-Spiegler综合症有关。不同的转录剪接变异体已经被表征,编码不同的异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:1540
ENSEMBL:ENSG00000083799
HGNC:2584
UNIPROT:Q9NQC7
OMIM:605018
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1540
24
19
59850 bp
107.32
291
4
15
39
CYLD 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
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Interactions
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Acting
Regulation
Detail
Mechanism
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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