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RNA Splicing01:32

RNA Splicing

60.2K
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...
60.2K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

17.8K
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,...
17.8K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

18.5K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
18.5K
Alternative RNA Splicing02:18

Alternative RNA Splicing

24.6K
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...
24.6K
Alternative RNA Splicing02:18

Alternative RNA Splicing

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Pre-mRNA Processing: RNA Splicing01:36

Pre-mRNA Processing: RNA Splicing

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関連する実験動画

Updated: Jan 8, 2026

Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models
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Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models

Published on: December 9, 2016

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エクソームシーケンシングにおけるスプライシング一塩基変異予測の実践的フレームワーク

Yasuhiro Utsuno1, Kohei Hamanaka1, Masamune Sakamoto1,2

  • 1Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.

NAR genomics and bioinformatics
|December 22, 2025
PubMed
まとめ

メンデル疾患の病原性スプライシング一塩基変異（SNV）を容易に評価するための新しいフレームワークを作成しました。このツールは、エクソームシーケンシングデータにおけるこれらの変異の検出を改善します。

キーワード:
スプライシング変異メンデル疾患エクソームシーケンシング遺伝子診断バイオインフォマティクス

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
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Identification of Alternative Splicing and Polyadenylation in RNA-seq Data

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関連する実験動画

Last Updated: Jan 8, 2026

Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models
09:58

Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models

Published on: December 9, 2016

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
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科学分野:

  • 遺伝学; バイオインフォマティクス; 計算生物学

背景:

  • スプライシング変異はメンデル疾患の主な原因です。スプライシング変異の病原性を予測することは、遺伝子診断における大きな課題です。

研究 の 目的:

  • 病原性スプライシング一塩基変異（SNV）を評価するための簡略化されたフレームワークを開発すること。2023年のACMG/AMPガイドラインおよびClinGen推奨事項に沿って変異分類を行うこと。

主な方法:

  • オープンリーディングフレーム領域のSNVに優先度スコア（-10から14）を割り当てるスコアリングシステムを開発しました。Human Gene Mutation Databaseからの病原性スプライシングSNVとgnomADからの一般的なSNVを使用してフレームワークを検証しました。SpliceAIと比較してフレームワークの識別力を評価しました。

主要な成果:

  • このフレームワークは、SpliceAI単独と比較して優れた識別能を示しました（AUC 0.991対0.983、P = 2.11 × 10⁻²³）。未解決の診断を受けた1257人の患者において、既知の遺伝子（COL2A1、PDHA1、MECP2、JAKMIP1）の病原性スプライシング変異を同定しました。候補となる疾患原因遺伝子（UBN1、NFE2L1）の可能性も示唆されました。

結論:

  • 開発されたフレームワークは、スプライシングSNVの病原性評価を簡略化します。この方法は、エクソームシーケンシングによるスプライシング変異の検出を強化し、遺伝性疾患の診断を支援します。