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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
HIRA - Histone Cell Cycle Regulator
Alias:
TUP1
DGCR1
TUPLE1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种组蛋白伴侣,优先将变异型组蛋白H3.3定位在核小体中。这个基因在酵母、果蝇和植物中的同源基因对于形成可转录沉默的异质染色质是必要的。这个基因在衰老相关异质染色质焦点的形成中扮演重要角色。这些焦点可能调节在衰老细胞中发生的不可逆细胞周期变化。被认为是在一些单倍不足综合征(如DiGeorge综合征)中的主要候选基因,基因产量不足可能破坏正常的胚胎发育。[由RefSeq,2008年7月提供]
Related ID:
NCBI:7290
ENSEMBL:ENSG00000100084
HGNC:4916
UNIPROT:P54198
OMIM:600237
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7290
1
25
101036 bp
111.83
79
1
11
22
HIRA 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)
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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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Regulation
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Related Mouse Models
Type
Name
MGI
Strain of Origin
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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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