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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
ELAPOR1 - Endosome-lysosome Associated Apoptosis And Autophagy Regulator 1
Alias:
EIG121
KIAA1324
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因在雌激素的作用下表达,编码的蛋白质被描述为一种跨膜蛋白。编码的蛋白质在某些癌瘤中与生存率有关(PMID: 21102415),可能对细胞对压力的反应很重要(PMID: 21072319)。不同的剪接方式会产生多个转录变体。[由RefSeq提供,2012年5月]
Related ID:
NCBI:57535
ENSEMBL:ENSG00000116299
HGNC:29618
UNIPROT:Q6UXG2
OMIM:611298
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
57535
8
22
92667 bp
111.38
16
--
7
8
ELAPOR1 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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Acting
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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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Year
IF
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