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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
KHDRBS1 - KH RNA Binding Domain Containing, Signal Transduction Associated 1
Alias:
p62
p68
Sam68
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码了一个包含K同源域、RNA结合、信号转导相关蛋白家族的成员。编码的蛋白质似乎有许多功能,可能参与多种细胞过程,包括可变剪接、细胞周期调节、RNA 3'端形成、肿瘤发生和人类免疫缺陷病毒基因表达的调节。可变剪接导致多种转录变体。[由RefSeq提供,2012年12月]
Related ID:
NCBI:10657
ENSEMBL:ENSG00000121774
HGNC:18116
UNIPROT:Q07666
OMIM:602489
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10657
2
9
46983 bp
48.23
13
--
8
42
KHDRBS1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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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
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Cell-specific RNA expression
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Acting
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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
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No Data Found!
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