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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
PBRM1 - Polybromo 1
Alias:
PB1
RCC
BAF180
SMARCH1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因座编码一个ATP依赖的染色质重塑复合物的亚单位。编码的蛋白质已被鉴定为核激素受体依赖的配体激活所必需的复合物的组成部分。这个基因座的突变与原发性透明细胞肾细胞癌有关。[RefSeq,2012年2月提供]
Related ID:
NCBI:55193
ENSEMBL:ENSG00000163939
HGNC:30064
UNIPROT:Q86U86
OMIM:606083
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55193
169
32
140547 bp
192.95
65
2
8
29
PBRM1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
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Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Name
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Status
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Link
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References Literature
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