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Alternative RNA Splicing

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...

Alternative RNA Splicing

Alternative RNA Splicing

RNA Splicing

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

RNA Splicing

Pre-mRNA Processing: RNA Splicing

Pre-mRNA Processing: RNA Splicing

Point and Frameshift Mutations

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...

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Related Experiment Video

Updated: Mar 15, 2026

Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells

Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells

Published on: April 26, 2017

ExonImpact: Prioritizing Pathogenic Alternative Splicing Events.

Meng Li^1,2, Weixing Feng¹, Xinjun Zhang²

¹Institute of Intelligent System and Bioinformatics, College of Automation, Harbin Engineering University, Harbin, Heilongjiang, 150001, China.

|September 9, 2016

Summary

This summary is machine-generated.

Alternative splicing (AS) generates protein diversity but can cause disease. This study identifies structural features linked to pathogenic AS events and develops ExonImpact, a tool to predict the functional impact of splicing changes.

Keywords:

alternative splicing disease exon impaction machine learning

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Last Updated: Mar 15, 2026

Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells

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Area of Science:

Molecular Biology
Genetics
Bioinformatics

Background:

Alternative splicing (AS) generates proteome diversity but its dysregulation is linked to inherited diseases.
Many AS events are neutral, making it challenging to distinguish pathogenic from non-pathogenic events.
Understanding the structural basis of pathogenic AS is crucial for disease research.

Purpose of the Study:

To investigate the association between protein structural features and the pathological impact of disease-causing alternative splicing events.
To develop a computational model for predicting the functional consequences of uncharacterized AS events.
To differentiate between disease-causing and neutral AS events based on structural properties.

Main Methods:

Analysis of secondary and tertiary protein structural features for known disease-causing and neutral AS events.
Development of a machine-learning model (ExonImpact) integrating structural data.
Model evaluation using cross-validation and external datasets (GTEx, ClinVar).

Main Results:

Specific structural features were identified as strong indicators of the pathological impact of exon inclusion in AS.
The ExonImpact model effectively prioritizes and evaluates the functional consequences of AS events.
The model demonstrated robust performance across various evaluation strategies.

Conclusions:

Protein structure plays a significant role in determining the pathogenicity of alternative splicing events.
ExonImpact provides a valuable tool for researchers to assess the functional and clinical significance of AS.
This work advances the understanding of AS-related diseases and offers a method for prioritizing further investigation.