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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
ETV6 - ETS Variant Transcription Factor 6
Alias:
TEL
THC5
TEL/ABL
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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ETS家族转录因子。这个基因的产品包含两个功能结构域:一个N-末端指向(PNT)结构域,参与与自身和其他蛋白质的蛋白质-蛋白质相互作用,以及一个C-末端DNA结合结构域。小鼠中的基因敲除研究表明,它对于造血和发育中的血管网络的维持是必需的。这个基因已知与大量与白血病和先天性纤维肉瘤相关的染色体重排有关。[由RefSeq,2008年9月提供]
Related ID:
NCBI:2120
ENSEMBL:ENSG00000139083
HGNC:3495
UNIPROT:P41212
OMIM:600618
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2120
13
8
245704 bp
53.00
238
12
10
30
ETV6 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
Alphabetical
Interactions
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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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