Distributions of Exons and Introns in the Human Genome
Abstract
The human genome is revisited using exon and intron distribution profiles. The 26,564 annotated genes in the human genome (build October, 2003) contain 233,785 exons and 207,344 introns. On average, there are 8.8 exons and 7.8 introns per gene. About 80% of the exons on each chromosome are < 200 bp in length. < 0.01% of the introns are < 20 bp in length and < 10% of introns are more than 11,000 bp in length. These results suggest constraints on the splicing machinery to splice out very long or very short introns and provide insight to optimal intron length selection. Interestingly, the total length in introns and intergenic DNA on each chromosome is significantly correlated to the determined chromosome size with a coefficient of correlation r = 0.95 and r = 0.97, respectively. These results suggest their implication in genome design.
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Exon lengths are highly conserved due to functional constraints on protein-coding sequences.
“While exon lengths are highly conserved due to functional constraints on protein-coding sequences (95–97)”
From Convergent genome streamlining accompanies independent miniaturization in the world’s smallest fishes (2026) · cites this paper as [97]
Intron lengths exhibit substantial biological variation and are less affected by annotation pipeline differences, as intron boundaries are defined by conserved splice sites.
“In contrast, intron lengths exhibit substantial biological variation and are less affected by annotation pipeline differences, as intron boundaries are defined by conserved splice sites (69, 95, 97, 98).”
From Convergent genome streamlining accompanies independent miniaturization in the world’s smallest fishes (2026) · cites this paper as [97]
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- Authors
- Sakharkar, M. K., Chow, V. T. K., & Kangueane, P.
- Affiliations
- Nanyang Technological University (SG)
- National University of Singapore (SG)
- Venue
- In Silico Biology: Journal of Biological Systems Modeling and Multi-Scale Simulation
- Publisher
- SAGE Publications
- Published
- 2004-01-01
- Volume
- 4
- Issue
- 4
- Pages
- 387-393
- ISSN
- 1386-6338 (ISSN-L)
- 1434-3207
- OpenAlex
- W1743872520
- Cited by
- 328
- References
- 0
- Citations by year
- 2026: 10 · 2025: 16 · 2024: 18 · 2023: 20 · 2022: 13 · 2021: 13 · 2020: 31 · 2019: 20 · 2018: 23 · 2017: 19 · 2016: 15 · 2015: 17 · 2014: 20 · 2013: 18 · 2012: 8
- FWCI
- 2.96
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- In Silico Biology (publishedVersion)
- PubMed (publishedVersion)
- National University of Singapore (submittedVersion)
- PubMed
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Life Sciences › Agricultural and Biological Sciences › Plant Science › Chromosomal and Genetic Variations
- Keywords
- intron distribution, human genome, intron length, exon length, splicing machinery, chromosome length, genome design, gene structure
- MeSH terms
- Chromosomes, Human, Exons, Humans, Introns, Genome, Human, Alternative Splicing, Computational Biology
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