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Gene

UVSSA

UV stimulated scaffold protein A

Summary

Cytogenetic location
4p16.3
Coordinates
Chromosome 4: 1,347,208–1,388,049 (GRCh38)
Exons
14 exons across 40.8 kb
Protein
709 amino acids
Inheritance
Autosomal recessive
Previous symbols
KIAA1530
MANE Select transcript
ENST00000389851.10NM_020894.4
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

  • DNA Repair Disease

    • Autosomal recessive

      A disease that has its basis in the disruption of DNA repair.

      • 3 GenCC submitters rate it definitive or strong

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 UVSSA is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 4, with a bracket where UVSSA sits. UVSSA and 17 genes near it on chromosome 4, from 867,629 to 1,867,628.Chromosome 44p16.3p16.3p16.2p16.1p15.33p15.32p15.31p15.2p15.1p14p13p12p11q11q12q13.1q13.2q13.3q21.1q21.21q21.22q21.23q21.3q22.1q22.2q22.3q23q24q25q26q27q28.1q28.2q28.3q31.1q31.21q31.22q31.23q31.3q32.1q32.2q32.3q33q34.1q34.2q34.3q35.1q35.21 Mb1.2 Mb1.4 Mb1.6 Mb1.8 MbGAK: 849,275–932,411, reverse strandGAKTMEM175: 932,153–958,989, forward strandTMEM175DGKQ: 958,884–986,895, reverse strandDGKQSLC26A1: 978,992–997,659, reverse strandSLC26A1IDUA: 986,997–1,008,344, forward strandIDUAFGFRL1: 1,008,649–1,026,901, forward strandFGFRL1RNF212: 1,056,247–1,113,697, reverse strandRNF212SPON2: 1,166,928–1,208,962, reverse strandSPON2CTBP1: 1,211,434–1,250,333, reverse strandCTBP1MAEA: 1,289,839–1,340,148, forward strandMAEAUVSSA: 1,347,208–1,388,049, forward strandUVSSANKX1-1: 1,402,932–1,406,442, reverse strandNKX1-1FAM53A: 1,617,915–1,684,356, reverse strandFAM53ASLBP: 1,692,731–1,712,344, reverse strandSLBPTACC3: 1,712,858–1,745,178, forward strandTACC3TMEM129: 1,715,951–1,721,367, reverse strandTMEM129FGFR3: 1,793,286–1,808,873, forward strandFGFR3LETM1: 1,811,479–1,856,244, reverse strandLETM1Diagram of UVSSA: 14 exons on the forward strand of chromosome 4Exon 3: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 6: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 1: 1,347,208–1,347,760, 553 basesExon 2: 1,348,090–1,348,189, 100 basesExon 3: 1,349,524–1,349,854, 331 basesExon 4: 1,351,715–1,351,835, 121 basesExon 5: 1,353,030–1,353,413, 384 basesExon 6: 1,354,735–1,354,847, 113 basesExon 7: 1,355,117–1,355,245, 129 basesExon 8: 1,366,320–1,366,431, 112 basesExon 9: 1,375,364–1,375,508, 145 basesExon 10: 1,376,034–1,376,168, 135 basesExon 11: 1,380,047–1,380,230, 184 basesExon 12: 1,380,880–1,380,988, 109 basesExon 13: 1,383,766–1,383,940, 175 basesExon 14: 1,385,868–1,388,049, 2,182 bases124681012145′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 4.8 kb of the gene's 40.8 kb; 2,130 of those bases code for the protein.

How a genome test reads UVSSA

8

positions in UVSSA 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 40.8 kb of UVSSA, introns included, not only the 4.8 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.). UVSSA gene: UV stimulated scaffold protein A. Retrieved 17 October 2026, from https://dantelabs.com/genes/uvssa

Vancouver

Dante Labs. UVSSA gene: UV stimulated scaffold protein A [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/uvssa

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