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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
CARS1 - Cysteinyl-tRNA Synthetase 1
Alias:
CARS
MDBH
CYSRS
MCDDBH
MGC:11246
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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1类氨基酸酰-tRNA合成酶,半胱氨酸酰-tRNA合成酶。二十种氨基酸酰-tRNA合成酶中的每一种都会催化特定的tRNA或tRNA异接受家族与相应的氨基酸的氨基酸酰化。这个基因是位于染色体11p15.5上的印记基因域附近的几种基因之一,这是一个重要的肿瘤抑制基因区域。这个区域的改变与贝克武-韦德曼综合征、威姆斯肿瘤、横纹肌肉瘤、肾上腺皮质癌和肺癌、卵巢癌和乳腺癌有关。这个基因的可变剪接导致多个转录变异体。[由RefSeq,2010年8月提供]
Related ID:
NCBI:833
ENSEMBL:ENSG00000110619
HGNC:1493
UNIPROT:P49589
OMIM:123859
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
833
12
23
56495 bp
85.47
55
3
2
16
CARS1 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
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Alphabetical
Cell-specific RNA expression
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Type
Name
MGI
Strain of Origin
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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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