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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
PRKDC - Protein Kinase, DNA-activated, Catalytic Subunit
Alias:
HYRC
p350
DNAPK
DNPK1
HYRC1
IMD26
XRCC7
DNAPKc
DNA-PKC
DNA-PKcs
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码依赖DNA的蛋白激酶(DNA-PK)的催化亚基。它与Ku70/Ku80异源二聚体蛋白在DNA双链断裂修复和重组中发挥作用。编码的蛋白质是PI3/PI4激酶家族的成员。[由RefSeq提供,2010年7月]
Related ID:
NCBI:5591
ENSEMBL:ENSG00000253729
HGNC:9413
UNIPROT:P78527
OMIM:600899
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5591
2
86
187026 bp
469.09
3693
2
45
83
PRKDC 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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