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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
BMI1 - BMI1 Proto-oncogene, Polycomb Ring Finger
Alias:
PCGF4
RNF51
FLVI2/BMI1
flvi-2/bmi-1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个环指蛋白,是polycomb组复合物1(PRC1)的主要组成部分。这个复合物通过染色质重塑作为胚胎发育和体细胞干细胞自我更新的多个调控基因的基本表观抑制因子发挥作用。这个蛋白也在DNA损伤修复中扮演中心角色。这个基因是癌基因,异常表达与多种癌症相关,并与对某些化学治疗的抵抗相关。这个基因的一个假基因位于染色体X上。还存在这个基因与上游的含COMM结构域的COMMD3基因之间的读穿转录。[RefSeq,2015年9月提供]
Related ID:
NCBI:648
ENSEMBL:ENSG00000168283
HGNC:1066
UNIPROT:P35226
OMIM:164831
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
648
1
10
10386 bp
36.95
3
--
13
19
BMI1 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
Abundance
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Interactions
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Acting
Regulation
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Residues
Reference
Score
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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