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相关概念视频

Alternative RNA Splicing02:18

Alternative RNA Splicing

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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...
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RNA Splicing01:32

RNA Splicing

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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...
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Pre-mRNA Processing: RNA Splicing01:36

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Exon Recombination02:32

Exon Recombination

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The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon...
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Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Chromatin Structure and RNA Splicing02:41

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相关实验视频

Updated: Jun 14, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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拼接VarDB:一个实验验证的人类拼接变体的全面数据库.

Patricia J Sullivan1, Julian M W Quinn2, Weilin Wu2

  • 1Children's Cancer Institute, Lowy Cancer Research Centre, UNSW Sydney, Sydney, NSW, Australia; School of Clinical Medicine, UNSW Medicine & Health, UNSW Sydney, Sydney, NSW, Australia; UNSW Centre for Childhood Cancer Research, UNSW Sydney, Sydney, NSW, Australia.

American journal of human genetics
|September 3, 2024
PubMed
概括

拼接VarDB是一个新的数据库,它从数千个基因中整合了超过50,000个拼接变体. 该资源有助于解释影响基因拼接的遗传变异,提高诊断准确度.

关键词:
准则拼接地点 准则拼接地点基因组学就是基因组学.这是一种致病性病原体.拼接区域 拼接区域拼接地点 拼接地点拼接 拼接 拼接 拼接拼接的监管要素是拼接.翻译学 翻译学 翻译学 翻译学变体解释变体解释进行全基因组测序.

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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:

  • 拼接变体对遗传疾病有很大贡献,但仅仅使用DNA数据就很难预测.
  • 目前基于RNA的分析资源密集,验证的拼接变体数据在ClinVar.Var等公共数据库中是分散的和不足的.
  • 这种碎片化阻碍了变体解释,并导致冗余的验证工作.

研究的目的:

  • 开发SpliceVarDB,这是一个集中在线数据库,用于影响基因拼接的变异.
  • 标准化和协调来自不同实验来源的拼接变体验证数据.
  • 为了促进拼接变体的解释,并支持改进的in silico预测工具的开发.

主要方法:

  • 编译了超过5万种影响8000多个人类基因拼接的变异.
  • 系统地评估了500多个已发表的数据来源,以确定变异拼接原性.
  • 建立了一个拼接致病度量表来根据证据强度对变异进行分类.

主要成果:

  • 将变种分为"改变拼接" (~25%),"不改变拼接" (~25%) 和"低频改变拼接" (~50%) 的类别.
  • 确定了SpliceVarDB中55%的拼接改变变体位于正规拼接站点之外,包括深层内部区域.
  • 证明了SpliceVarDB对于变体策划和预测模型开发的实用性.

结论:

  • 拼接VarDB为拼接变体数据提供了一个全面的,协调的资源,解决了遗传变体解释中的关键差距.
  • 该数据库支持诊断工作流程和先进的in silico拼接预测工具.
  • 在https://splicevardb.org上公开访问SpliceVarDB,促进合作研究和改进遗传疾病诊断.