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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
TSEN2 - TRNA Splicing Endonuclease Subunit 2
Alias:
SEN2
PCH2B
SEN2L
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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tRNA剪接内切酶的一个亚基。这个内切酶催化RNA剪接的第一步,即去除内含子。这个基因的突变与2型桥脑小脑发育不良有关。在染色体4上发现了一个假基因。已经发现这个基因有多个转录变异体,编码不同的异构体。[RefSeq,2009年2月提供]
Related ID:
NCBI:80746
ENSEMBL:ENSG00000154743
HGNC:28422
UNIPROT:Q8NCE0
OMIM:608753
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
80746
20
12
59394 bp
53.25
248
2
2
5
TSEN2 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
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Target
Residues
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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