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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
FRMD7 - FERM Domain Containing 7
Alias:
NYS
NYS1
XIPAN
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
预测能激活鸟苷酸交换因子活性。预测参与神经元突起发育的调节。预测在几个过程的上游或内部发挥作用,包括应力纤维组装的负调控;膜下质腺体组装的正调控;以及小GTP酶介导的信号传导的正调控。位于细胞质;核质;和质膜上。与先天性眼球震颤1有关。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:90167
ENSEMBL:ENSG00000165694
HGNC:8079
UNIPROT:Q6ZUT3
OMIM:300628
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
90167
5
12
51031 bp
81.61
347
3
4
17
FRMD7 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
Table View
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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
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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