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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
EIPR1 - EARP Complex And GARP Complex Interacting Protein 1
Alias:
TSSC1
EIPR-1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因被报道在PMID 9403053中,作为位于11p15.5印记基因域的几个可转移肿瘤抑制片段之一,这是一个重要的肿瘤抑制基因区。这个区域的变异与Beckwith-Wiedemann综合症、Wilms瘤、横纹肌肉瘤、肾上腺皮质癌和肺癌、卵巢癌和乳腺癌有关。将这个基因与基因组序列数据比对后,提示这个基因位于染色体2上,而非染色体11上。[由RefSeq,2008年12月提供]
Related ID:
NCBI:7260
ENSEMBL:ENSG00000032389
HGNC:12383
UNIPROT:Q53HC9
OMIM:608998
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7260
6
9
188849 bp
43.60
1
--
4
7
EIPR1 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
Organ
Abundance
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Interactions
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Acting
Regulation
Detail
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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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