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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
MAGEB1 - MAGE Family Member B1
Alias:
CT3.1
DAM10
MAGEL1
MAGE-Xp
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是MAGEB基因家族的成员之一。这个家族的成员整个编码序列位于最后一个外显子中,并且编码的蛋白质之间有50到68%的序列同一性。MAGEB基因的启动子和第一个外显子显示出相当的变化性,这表明这个基因家族的存在使得在不同的转录控制下表达相同的功能成为可能。这个基因位于DSS(剂量敏感性别逆转)关键区域,并在睾丸和各种组织学类型的肿瘤的大部分中表达。这个基因和其他MAGEB成员聚集在染色体Xp22-p21上。已经发现这个基因的多个可变剪接转录变异体编码相同的蛋白质,然而,一些变异体的完整长度尚未确定。[由RefSeq,2008年7月提供]
Related ID:
NCBI:4112
ENSEMBL:ENSG00000214107
HGNC:6808
UNIPROT:P43366
OMIM:300097
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4112
3
2
8310 bp
39.04
17
--
4
6
MAGEB1 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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