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Related Concept Videos

RNA Splicing01:32

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 Splicing01:32

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 Splicing02:18

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 Splicing02:18

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...
Pre-mRNA Processing: RNA Splicing01:32

Pre-mRNA Processing: 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 Editing02:23

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...

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Related Experiment Video

Updated: May 27, 2026

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency
08:53

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency

Published on: September 15, 2021

SpliceDisease database: linking RNA splicing and disease.

Juan Wang1, Jie Zhang, Kaibo Li

  • 1Department of Biomedical Informatics, Peking University Health Science Center, MOE Key Laboratory of Molecular Cardiology, Peking University, Beijing 100191, China. wjuan@hsc.pku.edu.cn

Nucleic Acids Research
|December 6, 2011
PubMed
Summary

RNA splicing defects are linked to human diseases. The SpliceDisease database integrates 2337 splicing mutation disease entries, aiding research into RNA splicing

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Last Updated: May 27, 2026

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency
08:53

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency

Published on: September 15, 2021

Using the E1A Minigene Tool to Study mRNA Splicing Changes
10:25

Using the E1A Minigene Tool to Study mRNA Splicing Changes

Published on: April 22, 2021

Area of Science:

  • Molecular Biology
  • Genetics
  • Bioinformatics

Background:

  • RNA splicing is a critical gene regulation process.
  • Dysregulation of RNA splicing contributes to various human diseases.
  • Existing resources lack comprehensive integration of splicing defects and associated diseases.

Purpose of the Study:

  • To develop a centralized database, SpliceDisease, for RNA splicing mutations and disease associations.
  • To facilitate understanding of the role of splicing defects in human pathologies.
  • To provide a valuable resource for researchers in genetics, molecular biology, and medicine.

Main Methods:

  • Manual curation of 2337 splicing mutation-disease entries from 898 publications.
  • Standardization of gene and disease names.
  • Integration of mutation details, gene locations, and disease descriptions.

Main Results:

  • The SpliceDisease database contains 2337 manually curated entries.
  • These entries cover 303 genes and 370 diseases, supported by experimental evidence.
  • Provides detailed information on nucleotide changes, mutation locations, and PubMed IDs.

Conclusions:

  • SpliceDisease offers a comprehensive resource for studying RNA splicing and its link to human diseases.
  • The database facilitates research into disease mechanisms and potential therapeutic targets.
  • Accessible online at http://cmbi.bjmu.edu.cn/sdisease for browsing, searching, and downloading.