Gene
PUS3
pseudouridine synthase 3
- HGNC 25461(opens in a new tab)
- Ensembl gene ENSG00000110060(opens in a new tab)
- NCBI Gene 83480(opens in a new tab)
Summary
- Cytogenetic location
- 11q24.2
- Coordinates
- Chromosome 11: 125,893,485–125,903,206 (GRCh38)
- Exons
- 4 exons across 9.7 kb
- Protein
- 481 amino acids
- Also known as
- FKSG32, DEG1
- MANE Select transcript
- ENST00000227474.8NM_031307.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads PUS3 yet. The test sequences your whole genome, so your data includes it all the same.
How PUS3 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 1.8 kb of the gene's 9.7 kb; 1,446 of those bases code for the protein.
How a genome test reads PUS3
13
positions in PUS3 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 9.7 kb of PUS3, introns included, not only the 1.8 kb of exons.
Traits linked to PUS3
The Human Phenotype Ontology lists these as features of the rare conditions PUS3 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Global developmental delay
- Epilepsy
- Abnormal gait
- Bilateral tonic-clonic seizure with focal onset
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Degeneration of cerebrum
- Fluid-filled sac located in membrane surrounding brain or spinal cord
- Intellectual disability, severe
Show 17 more traits
- IQ less than 20
- Multifocal cerebral white matter abnormalities
- Poor social interactions
- Poor speech
- Ventriculomegaly
- Abnormality of balance
- Absent speech development
- Aggressive behavior
- Difficulty articulating speech
- Dysplastic corpus callosum
- Increased reflexes
- Lateral ventricle dilatation
- Multifocal hyperintensity of cerebral white matter on MRI
- Pseudobulbar affect
- Psychosis
- Underdevelopment of part of brain called corpus callosum
- Visual hallucinations
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). PUS3 gene: pseudouridine synthase 3. Retrieved 17 October 2026, from https://dantelabs.com/genes/pus3
Dante Labs. PUS3 gene: pseudouridine synthase 3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pus3
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