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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
EPS15 - Epidermal Growth Factor Receptor Pathway Substrate 15
Alias:
AF1P
AF-1P
MLLT5
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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EGFR通路的一部分。该蛋白质存在于clatherin包被的坑中,并涉及EGF的受体介导的内吞作用。值得注意的是,这个基因在急性髓细胞白血病中与HRX/ALL/MLL基因重排。可选的剪接导致多个转录变异体编码不同的异构体。[由RefSeq提供,2009年5月]
Related ID:
NCBI:2060
ENSEMBL:ENSG00000085832
HGNC:3419
UNIPROT:P42566
OMIM:600051
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2060
8
25
165004 bp
98.66
31
--
5
41
EPS15 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
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Interactions
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
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Journal
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IF
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