Gene
USB1
U6 snRNA biogenesis phosphodiesterase 1
- HGNC 25792↗(opens in a new tab)
- Ensembl gene ENSG00000103005↗(opens in a new tab)
- NCBI Gene 79650↗(opens in a new tab)
Summary
- Cytogenetic location
- 16q21
- Coordinates
- Chromosome 16: 58,001,407–58,021,618 (GRCh38)
- Exons
- 7 exons across 20.2 kb
- Protein
- 265 amino acids
- Also known as
- FLJ13154, HVSL1, Mpn1
- Previous symbols
- C16orf57
- MANE Select transcript
- ENST00000219281.8NM_024598.4
- 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 USB1 yet. The test sequences your whole genome, so your data includes it all the same.
How USB1 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 2.2 kb of the gene's 20.2 kb; 798 of those bases code for the protein.
How a genome test reads USB1
4
positions in USB1 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 20.2 kb of USB1, introns included, not only the 2.2 kb of exons.
Traits linked to USB1
The Human Phenotype Ontology lists these as features of the rare conditions USB1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Blocked tear duct
- Dental cavities
- Midface retrusion
- Oral white patch
- Abnormal dentition
- Depressed nasal bridge
- Failure of development of between one and six teeth
- Frontal bossing
Show 16 more traits
- Gum disease
- Limited hair on end of eyebrow
- Little lower jaw
- Long philtrum
- Low hairline at back of neck
- Receding chin
- Recurrent sinus disease
- Short nose
- Sparse eyebrow
- Taurodontia
- Underdeveloped tissue around nostril
- Abnormal eyelashes
- Abnormality of the eyebrow
- Decreased size of maxilla
- Inflammation of eyelids
- Pink eye
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.). USB1 gene: U6 snRNA biogenesis phosphodiesterase 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/usb1
Dante Labs. USB1 gene: U6 snRNA biogenesis phosphodiesterase 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/usb1
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