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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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WFDC1 - WAP Four-disulfide Core Domain 1
Alias:
PS20
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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WAP型四个二硫键核心结构域家族的一员。WAP型四个二硫键核心结构域含有八个半胱氨酸,形成蛋白质核心的四个二硫键,并在许多家族成员中起到蛋白酶抑制剂的作用。这个基因位于染色体16q24上,这是一个在癌症中常见的杂合性丢失区域,包括前列腺、乳腺癌和肝细胞癌以及维尔姆斯肿瘤。这个基因在许多癌症类型中表达下调,可能涉及细胞增殖的抑制。编码的蛋白质也可能在某些CD4记忆T细胞对人免疫缺陷病毒感染的易感性中发挥作用。可变剪接导致多个转录变异体。[由RefSeq,2013年9月提供]
Related ID:
NCBI:58189
ENSEMBL:ENSG00000103175
HGNC:15466
UNIPROT:Q9HC57
OMIM:605322
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
58189
4
7
34967 bp
23.98
22
--
5
4
WFDC1 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)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
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Alphabetical
Cell-specific RNA expression
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Acting
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Type
Name
MGI
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Related Drugs
Name
CAS Number
Status
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Link
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References Literature
Title
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Journal
Year
IF
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