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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
DNMT1 - DNA Methyltransferase 1
Alias:
AIM
DNMT
MCMT
CXXC9
HSN1E
ADCADN
m.HsaI
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种将甲基基团转移到基因组DNA的胞嘧啶核苷酸中的酶。这种蛋白质是负责在DNA复制后维持甲基化模式的主要酶,并显示对半甲基化DNA的偏好。DNA的甲基化是哺乳动物表观遗传基因调控的重要成分。异常的甲基化模式在人类肿瘤中发现,并与发育异常相关。这个基因的变异与小脑性共济失调、耳聋和嗜睡症以及遗传性感觉神经病变,类型IE有关。可选的剪接导致多个转录变异体。[由RefSeq,2016年1月提供]
Related ID:
NCBI:1786
ENSEMBL:ENSG00000130816
HGNC:2976
UNIPROT:P26358
OMIM:126375
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1786
4
41
61608 bp
183.16
1192
2
28
44
DNMT1 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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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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