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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
TVP23C-CDRT4 - TVP23C-CDRT4 Readthrough
Alias:
TVP23C
FAM18B2
FAM18B2-CDRT4
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因座代表了在染色体17上的相邻的TVP23C(高尔基网络囊泡蛋白23同源物)和CDRT4(CMT1A重复区域转录物4)基因之间自然发生的读穿转录。可变剪接导致多个转录变异体,其中之一编码的蛋白质与上游基因产物具有序列一致性,但由于相对于下游基因的框架移动,其C端是独特的。[由RefSeq,2014年4月提供]
Related ID:
NCBI:100533496
ENSEMBL:ENSG00000259024
HGNC:42961
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
100533496
1
7
127469 bp
31.11
8
--
8
5
TVP23C-CDRT4 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
No data available
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
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Journal
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IF
No Data Found!
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