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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
ASXL2 - ASXL Transcriptional Regulator 2
Alias:
ASXH2
SHAPNS
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个表观遗传调控蛋白家族成员,该家族成员结合各种组蛋白修饰酶,并参与转录因子在特定基因组位点的组装。这个基因的自然突变与几种组织类型(乳腺癌、膀胱癌、胰腺癌、卵巢癌、前列腺癌和白血病)的癌症有关。这个基因在神经发育、心脏功能、脂肪形成和破骨细胞形成中扮演重要角色。[RefSeq,2017年2月提供]
Related ID:
NCBI:55252
ENSEMBL:ENSG00000143970
HGNC:23805
UNIPROT:Q76L83
OMIM:612991
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55252
3
13
144735 bp
153.82
378
1
7
13
ASXL2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
Table View
Tile View
#
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
Alphabetical
Interactions
Reset
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
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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