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Gene

EYA1

EYA transcriptional coactivator and phosphatase 1

Summary

Cytogenetic location
8q13.3
Coordinates
Chromosome 8: 71,197,433–71,362,069 (GRCh38)
Exons
18 exons across 164.6 kb
Protein
592 amino acids
Inheritance
Autosomal dominant
Previous symbols
BOR
MANE Select transcript
ENST00000340726.8NM_000503.6
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

  • Branchio-Oto-Renal Spectrum Disorder

    • Autosomal dominant

      A dominant condition, mainly caused by changes in EYA1, SIX1 or SIX5, that causes conductive, sensorineural or mixed hearing loss, ear malformations, neck cysts or pits and, in some people, kidney anomalies.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing about it prompts hearing assessment and kidney ultrasound surveillance, and informs family counselling.

  • Congenital Anomalies of the Kidney and Urinary Tract

    • Branchio-Oto-Renal SyndromeAutosomal dominant

      A condition caused by EYA1 or SIX1 variants affecting the neck, ears and hearing, and kidneys.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing prompts hearing assessment and kidney imaging.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How EYA1 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 EYA1 sits. EYA1 and 1 gene near it on chromosome 8, from 70,779,751 to 71,779,750.Chromosome 88q13.3p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.370.8 Mb71 Mb71.2 Mb71.4 Mb71.6 MbXKR9: 70,669,331–70,790,371, forward strandXKR9EYA1: 71,197,433–71,362,069, reverse strandEYA1Diagram of EYA1: 18 exons on the reverse strand of chromosome 8Exon 18: 10 known disease-causing sitesExon 17: 13 known disease-causing sitesExon 16: 9 known disease-causing sitesExon 15: 12 known disease-causing sitesExon 14: 15 known disease-causing sitesExon 13: 5 known disease-causing sitesExon 12: 8 known disease-causing sitesExon 11: 5 known disease-causing sitesExon 10: 7 known disease-causing sitesExon 9: 10 known disease-causing sitesExon 8: 4 known disease-causing sitesExon 7: 8 known disease-causing sitesExon 6: 4 known disease-causing sitesExon 5: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 18: 71,197,433–71,199,420, 1,988 basesExon 17: 71,211,156–71,211,256, 101 basesExon 16: 71,215,387–71,215,508, 122 basesExon 15: 71,215,614–71,215,728, 115 basesExon 14: 71,216,692–71,216,852, 161 basesExon 13: 71,216,965–71,217,023, 59 basesExon 12: 71,244,603–71,244,692, 90 basesExon 11: 71,269,740–71,269,823, 84 basesExon 10: 71,271,758–71,271,897, 140 basesExon 9: 71,299,047–71,299,233, 187 basesExon 8: 71,299,638–71,299,720, 83 basesExon 7: 71,317,552–71,317,689, 138 basesExon 6: 71,321,734–71,321,879, 146 basesExon 5: 71,322,199–71,322,268, 70 basesExon 4: 71,334,097–71,334,174, 78 basesExon 3: 71,354,782–71,354,909, 128 basesExon 2: 71,356,462–71,356,511, 50 basesExon 1: 71,361,647–71,362,069, 423 bases181510515′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 4.2 kb of the gene's 164.6 kb; 1,779 of those bases code for the protein.

How a genome test reads EYA1

144

positions in EYA1 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 164.6 kb of EYA1, introns included, not only the 4.2 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.). EYA1 gene: EYA transcriptional coactivator and phosphatase 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/eya1

Vancouver

Dante Labs. EYA1 gene: EYA transcriptional coactivator and phosphatase 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/eya1

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