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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
DLEC1 - DLEC1 Cilia And Flagella Associated Protein
Alias:
F56
DLC1
DLC-1
FAP81
CFAP81
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因的细胞遗传学位置是3p21.3,它位于多种恶性肿瘤中常见缺失的区域。在包括肺癌、食管癌、肾肿瘤和头颈部鳞状细胞癌在内的几种人类癌症中,已经观察到这个基因的下调表达。在某些情况下,这个基因在肿瘤细胞中的降低表达是由于异常启动子甲基化所导致的。已经观察到了几种可变剪接转录本,它们含有破坏的编码区域,可能编码非功能性蛋白质。[由RefSeq,2016年3月提供]
Related ID:
NCBI:9940
ENSEMBL:ENSG00000008226
HGNC:2899
UNIPROT:Q9Y238
OMIM:604050
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9940
10
37
84818 bp
195.68
114
1
4
5
DLEC1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Status
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Link
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References Literature
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