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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
AFDN - Afadin, Adherens Junction Formation Factor
Alias:
AF6
MLLT4
MLL-AF6
l-afadin
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个多结构域蛋白质,参与胚胎发育过程中细胞连接的信号传递和组织。它还已被鉴定为急性淋巴细胞白血病(ALL-1)基因的融合伙伴,涉及具有t(6;11)(q27;q23)易位的急性髓细胞白血病。已经描述了这个基因的替代剪接转录变异体,编码不同的异构体,然而并非所有变异体都已完全特征化。[由RefSeq提供,2011年5月]
Related ID:
NCBI:4301
ENSEMBL:ENSG00000130396
HGNC:7137
UNIPROT:P55196
OMIM:159559
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4301
53
34
145460 bp
206.80
16
--
9
20
AFDN Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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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
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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
Year
IF
No Data Found!
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