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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
EFR3A - EFR3 Homolog A
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是复合物的一部分,该复合物在维持质膜上的磷酸肌醇4-激酶(PI4K)活性池中发挥作用。这个蛋白质被认为是一种通过棕榈酰化与质膜结合的周边膜蛋白质。研究表明,这个基因产物通过影响受体磷酸化来控制G蛋白偶联受体(GPCR)的活性。全外显子测序研究表明,这个基因的突变与自闭症谱系障碍有关。[RefSeq,2016年4月提供]
Related ID:
NCBI:23167
ENSEMBL:ENSG00000132294
HGNC:28970
UNIPROT:Q14156
OMIM:611798
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23167
9
23
109550 bp
92.92
39
--
6
14
EFR3A Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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Score
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No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Interactions
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Acting
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Type
Name
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Status
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References Literature
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No Data Found!
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