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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
SETMAR - SET Domain And Mariner Transposase Fusion Gene
Alias:
Mar1
METNASE
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个融合蛋白,包含一个N端的组蛋白-赖氨酸N-甲基转移酶结构域和一个C端的mariner转座酶结构域。编码的蛋白结合DNA,并在DNA修复活动中发挥作用,包括非同源末端连接和双链断裂修复。该蛋白的SET结构域部分特异性地甲基化组蛋白H3的赖氨酸4和36。这个基因作为融合基因仅存在于类人灵长类中,其他生物缺乏mariner转座酶结构域。交替剪接导致多个转录变异体。[由RefSeq,2013年1月提供]
Related ID:
NCBI:6419
ENSEMBL:ENSG00000170364
HGNC:10762
UNIPROT:Q53H47
OMIM:609834
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6419
10
3
13897 bp
78.03
26
--
3
20
SETMAR 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
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Reference
Score
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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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