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Gene

DPYS

dihydropyrimidinase

Summary

Cytogenetic location
8q22.3
Coordinates
Chromosome 8: 104,379,431–104,467,055 (GRCh38)
Exons
10 exons across 87.6 kb
Protein
519 amino acids
Inheritance
Autosomal recessive
Also known as
DHPase
MANE Select transcript
ENST00000351513.7NM_001385.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Purine & Pyrimidine Metabolism Disorders

    • Dihydropyrimidinase DeficiencyAutosomal recessive

      Caused by variants in DPYS, which can range from no symptoms to neurological problems and also increases the risk of fluoropyrimidine toxicity.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing alerts doctors to the risk of toxicity from fluoropyrimidine chemotherapy.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How DPYS is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 8, with a bracket where DPYS sits. DPYS and 4 genes near it on chromosome 8, from 103,923,243 to 104,923,242.Chromosome 88q22.3p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.3104 Mb104.2 Mb104.4 Mb104.6 Mb104.8 MbRIMS2: 103,499,638–104,254,698, forward strandRIMS2DCSTAMP: 104,339,087–104,356,689, forward strandDCSTAMPDPYS: 104,379,431–104,467,055, reverse strandDPYSLRP12: 104,487,485–104,589,292, reverse strandLRP12ZFPM2: 104,590,733–105,805,813, forward strandZFPM2Diagram of DPYS: 10 exons on the reverse strand of chromosome 8Exon 9: 2 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 6: 4 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 3: 1 known disease-causing siteExon 2: 1 known disease-causing siteExon 1: 3 known disease-causing sitesExon 10: 104,379,431–104,379,843, 413 basesExon 9: 104,381,184–104,381,314, 131 basesExon 8: 104,392,784–104,392,991, 208 basesExon 7: 104,424,247–104,424,389, 143 basesExon 6: 104,427,980–104,428,121, 142 basesExon 5: 104,429,545–104,429,701, 157 basesExon 4: 104,444,248–104,444,437, 190 basesExon 3: 104,447,324–104,447,503, 180 basesExon 2: 104,451,246–104,451,404, 159 basesExon 1: 104,466,657–104,467,055, 399 bases10864215′3′

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 2.1 kb of the gene's 87.6 kb; 1,560 of those bases code for the protein.

How a genome test reads DPYS

19

positions in DPYS 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 87.6 kb of DPYS, introns included, not only the 2.1 kb of exons.

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.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • 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

APA

Dante Labs. (n.d.). DPYS gene: dihydropyrimidinase. Retrieved 16 October 2026, from https://dantelabs.com/genes/dpys

Vancouver

Dante Labs. DPYS gene: dihydropyrimidinase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/dpys

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