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Gene

PUS7

pseudouridine synthase 7

Summary

Cytogenetic location
7q22.3
Coordinates
Chromosome 7: 105,456,503–105,522,271 (GRCh38)
Exons
16 exons across 65.8 kb
Protein
661 amino acids
Also known as
FLJ20485
MANE Select transcript
ENST00000469408.6NM_019042.5
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 reports relevant to this gene

No Genome Test report reads PUS7 yet. The test sequences your whole genome, so your data includes it all the same.

How PUS7 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 7, with a bracket where PUS7 sits. PUS7 and 8 genes near it on chromosome 7, from 104,989,387 to 105,989,386.Chromosome 77q22.3p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.3105 Mb105.2 Mb105.4 Mb105.6 Mb105.8 MbKMT2E: 104,940,943–105,116,242, forward strandKMT2E: 105,040,848–105,040,925, forward strand: 105,040,858–105,040,956, forward strandSRPK2: 105,110,704–105,399,308, reverse strandSRPK2PUS7: 105,456,503–105,522,271, reverse strandPUS7RINT1: 105,532,116–105,569,207, forward strandRINT1EFCAB10: 105,565,109–105,600,875, reverse strandEFCAB10ATXN7L1: 105,604,772–105,877,400, reverse strandATXN7L1CDHR3: 105,876,796–106,036,432, forward strandCDHR3Diagram of PUS7: 16 exons on the reverse strand of chromosome 7Exon 16: 1 known disease-causing siteExon 14: 1 known disease-causing siteExon 12: 2 known disease-causing sitesExon 11: 4 known disease-causing sitesExon 10: 2 known disease-causing sitesExon 9: 3 known disease-causing sitesExon 8: 1 known disease-causing siteExon 5: 3 known disease-causing sitesExon 4: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 2: 7 known disease-causing sitesExon 16: 105,456,503–105,457,926, 1,424 basesExon 15: 105,459,168–105,459,259, 92 basesExon 14: 105,462,621–105,462,750, 130 basesExon 13: 105,465,313–105,465,414, 102 basesExon 12: 105,468,337–105,468,463, 127 basesExon 11: 105,470,688–105,470,848, 161 basesExon 10: 105,472,132–105,472,193, 62 basesExon 9: 105,481,052–105,481,177, 126 basesExon 8: 105,482,312–105,482,440, 129 basesExon 7: 105,491,540–105,491,617, 78 basesExon 6: 105,495,142–105,495,253, 112 basesExon 5: 105,502,420–105,502,564, 145 basesExon 4: 105,505,955–105,506,056, 102 basesExon 3: 105,506,189–105,506,273, 85 basesExon 2: 105,508,115–105,508,544, 430 basesExon 1: 105,522,052–105,522,271, 220 bases16141210864215′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 3.5 kb of the gene's 65.8 kb; 1,986 of those bases code for the protein.

How a genome test reads PUS7

31

positions in PUS7 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 65.8 kb of PUS7, introns included, not only the 3.5 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.
  • 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.). PUS7 gene: pseudouridine synthase 7. Retrieved 16 October 2026, from https://dantelabs.com/genes/pus7

Vancouver

Dante Labs. PUS7 gene: pseudouridine synthase 7 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pus7

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