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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
DDX39B - DExD-box Helicase 39B
Alias:
BAT1
UAP56
D6S81E
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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DEAD盒家族的一员,该家族在pre-mRNA剪接过程中调节ATP水解。编码的蛋白质是U2小核核糖核蛋白与pre-mRNA结合所需的基本剪接因子,并在mRNA从核到细胞质的输出中起到重要作用。这个基因属于一群位于肿瘤坏死因子α和肿瘤坏死因子β基因附近的基因。这些基因都在人类主要组织相容性复合体III类区域。这个基因的突变可能与类风湿关节炎有关。可选的剪接导致多个转录变异体。在染色体6和11上都发现了相关的假基因。在这个基因和上游的ATP6V1G2(ATPase,H+运输,溶酶体13kDa,V1亚基G2)基因之间也发生了贯通性转录。[RefSeq,2011年2月提供]
Related ID:
NCBI:7919
ENSEMBL:ENSG00000198563
HGNC:13917
UNIPROT:Q13838
OMIM:142560
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7919
2
11
11778 bp
48.99
12
--
4
36
DDX39B Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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