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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
IQSEC1 - IQ Motif And Sec7 Domain ArfGEF 1
Alias:
BRAG2
GEP100
IDDSSBA
ARFGEP100
ARF-GEP100
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
预测能够实现蛋白激酶结合活性。预测涉及几个过程,包括聚焦粘附解除的正向调节;角质细胞迁移的正向调节;以及突触后神经递质受体内化的调节。位于核仁中。与智力发育障碍、矮小身材和行为异常有关。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:9922
ENSEMBL:ENSG00000144711
HGNC:29112
UNIPROT:Q6DN90
OMIM:610166
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9922
32
14
386215 bp
108.31
116
2
3
13
IQSEC1 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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