MAJIQlopedia:人类组织和癌症中的RNA拼接变异和癌症百科全书
Mathieu Quesnel-Vallières1,2, San Jewell1, Kristen W Lynch2
1Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.
Nucleic acids research
|November 12, 2023
概括
MAJIQlopedia是一个新的数据库,列出了86种人类组织和41种癌症类型的RNA拼接变异. 它提供了一个用户友好的界面来探索组织和癌症特定的拼接模式用于研究.
科学领域:
- 基因组学就是基因组学.
- 分子生物学分子生物学
- 生物信息学是一种生物信息学.
背景情况:
- RNA拼接变异有助于组织和疾病特定的模式.
- 了解这些变异对于生物和医学研究至关重要.
研究的目的:
- 介绍MAJIQlopedia,一个关于RNA拼接变异的全面数据库.
- 为探索跨人体组织和癌症的拼接事件提供一个用户友好的平台.
主要方法:
- 分析了来自86个人类组织和41个癌症数据集的RNA测序数据.
- MAJIQ百科全书是为了报告注释和未注释的替代拼接连接而开发的.
- 创建了一个Web界面,用于图形表示交叉点使用量化.
主要成果:
- 该数据库包含正常组织中的486,175个替代拼接接口和癌症中的338,317个.
- 已知基因 (WT1,MAPT,BIN1) 的剪接变异被审查.
- 在FDX1,MEGF9和RPS6KA6中发现了新的拼接变异.
结论:
- MAJIQ百科作为了解基因拼接变异的宝贵参考.
- 它促进了对组织和癌症特异性拼接异型使用的研究.
- 数据库可用于下载,数据添加请求和本地服务器安装.
相关概念视频
RNA Splicing
Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
RNA Splicing
Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
Alternative RNA Splicing
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
RNA Editing
RNA editing is a post-transcriptional modification where a precursor mRNA (pre-mRNA) nucleotide sequence is changed by base insertion, deletion, or modification. The extent of RNA editing varies from a few hundred bases, in mitochondrial DNA of trypanosomes, to a just single base, in nuclear genes of mammals. Even a single base change in the pre-mRNA can convert a codon for one amino acid into the codon for another amino acid or a stop codon. This type of re-coding can significantly affect the...
Chromatin Structure and RNA Splicing
In eukaryotic cells, nascent mRNA transcripts need to undergo many post-transcriptional modifications to reach the cell cytoplasm and translate into functional proteins. For a long time, transcription and pre-mRNA processing were considered two independent events that occur sequentially in the cell. However, it has now been well established that transcription and pre-mRNA processing are two simultaneous processes that are precisely regulated inside the cell.
The chromatin structure, especially...
The chromatin structure, especially...
Alternative RNA Splicing
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...


