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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
NSUN5 - NOP2/Sun RNA Methyltransferase 5
Alias:
NOL1
p120
NOL1R
NSUN5A
WBSCR20
WBSCR20A
p120(NOL1)
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个在进化上保守的蛋白质家族成员,可能作为甲基转移酶发挥作用。这个基因位于7号染色体的一个较大区域,该区域在威廉斯-伯伦综合征中缺失,这是一种多系统发育障碍。这个基因有两个假基因位于7号染色体的同一区域。选择性剪接导致多个转录变异体编码不同的异构体。[由RefSeq,2013年7月提供]
Related ID:
NCBI:55695
ENSEMBL:ENSG00000130305
HGNC:16385
UNIPROT:Q96P11
OMIM:615732
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55695
5
10
6311 bp
46.69
31
--
7
11
NSUN5 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
Reset
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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