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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
PGBD3 - PiggyBac Transposable Element Derived 3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是一个由 piggyBac 可移动元素衍生的小家族基因成员。编码的蛋白质含有锌带结构域,这是转座子衍生蛋白质的特征,可能作为转录调节因子。在相邻上游基因“切除修复交叉互补组6”(ERCC6,GeneID: 2074)的外显子5的剪接位点和这个基因开放阅读框(ORF)上游的3’剪接位点之间发生选择性剪接,激活了衍生自 piggyBac 的 3’ ORF 下游的选择性聚腺苷酸化位点。产生的转录本编码一个与每个单独基因的产物具有相似序列的融合蛋白。这个基因的假基因位于染色体4、5和12上。[RefSeq,2016年3月提供]
Related ID:
NCBI:267004
HGNC:19400
UNIPROT:Q8N328
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
267004
1
2
9177 bp
67.59
120
7
--
8
PGBD3 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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References Literature
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