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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
HNRNPU - Heterogeneous Nuclear Ribonucleoprotein U
Alias:
SAFA
DEE54
HNRPU
SAF-A
U21.1
pp120
EIEE54
GRIP120
hnRNP U
HNRNPU-AS1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个蛋白质家族成员,该家族成员与核酸结合并在核中与异质核RNA(hnRNA)共同形成核糖核蛋白复合物。编码的蛋白质对RNA和DNA都有亲和力,并且与支架附着区(SAR)DNA结合。这个基因的突变与早期婴儿癫痫性脑病54有关。这个基因的一个假基因已经在染色体14上被鉴定出。[由RefSeq,2017年6月提供]
Related ID:
NCBI:3192
ENSEMBL:ENSG00000153187
HGNC:5048
UNIPROT:Q00839
OMIM:602869
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3192
2
14
14247 bp
90.58
781
3
4
62
HNRNPU 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
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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
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Journal
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IF
No Data Found!
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