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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
GPATCH8 - G-patch Domain Containing 8
Alias:
GPATC8
KIAA0553
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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包含一个RNA加工结构域,一个锌指结构域,一个富含赖氨酸的区域和一个富含丝氨酸的区域。蛋白质中富含丝氨酸区域的突变被认为与高尿酸血症有关(PMID: 21594610)。可变剪接导致多个转录变异体编码不同的异构体。[由RefSeq,2015年2月提供]
Related ID:
NCBI:23131
ENSEMBL:ENSG00000186566
HGNC:29066
UNIPROT:Q9UKJ3
OMIM:614396
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23131
14
8
108126 bp
164.20
62
--
3
15
GPATCH8 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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