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Gene

COA7

cytochrome c oxidase assembly factor 7

Summary

Cytogenetic location
1p32.3
Coordinates
Chromosome 1: 52,684,449–52,698,347 (GRCh38)
Exons
3 exons across 13.9 kb
Protein
231 amino acids
Inheritance
Autosomal recessive
Also known as
FLJ12439, RESA1
Previous symbols
C1orf163, SELRC1
MANE Select transcript
ENST00000371538.5NM_023077.3
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 reports relevant to this gene

  • DNA Repair Disease

    • Autosomal recessive

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

      • 1 GenCC submitter rates it definitive or strong

Broader groupings

  • Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)

    • Autosomal Recessive Cerebellar AtaxiaAutosomal recessive

      One of 57 genes linked to it

      A group of recessively inherited ataxias caused by biallelic variants in genes such as RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 and SYNE1.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Ataxia with vitamin E deficiency (TTPA) is treatable with vitamin E supplements; other forms are managed with physiotherapy and symptom care, and relatives can be offered carrier testing.

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 COA7 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where COA7 sits. COA7 and 13 genes near it on chromosome 1, from 52,191,398 to 53,191,397.Chromosome 11p32.3p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4452.2 Mb52.4 Mb52.6 Mb52.8 Mb53 MbZFYVE9: 52,141,883–52,348,671, forward strandZFYVE9CC2D1B: 52,345,714–52,366,318, reverse strandCC2D1BORC1: 52,370,994–52,404,492, reverse strandORC1PRPF38A: 52,404,060–52,421,226, forward strandPRPF38ATUT4: 52,408,282–52,553,504, reverse strandTUT4GPX7: 52,602,280–52,609,143, forward strandGPX7SHISAL2A: 52,633,168–52,670,143, forward strandSHISAL2ACOA7: 52,684,449–52,698,347, reverse strandCOA7ZYG11B: 52,726,390–52,827,336, forward strandZYG11BZYG11A: 52,842,511–52,894,998, forward strandZYG11AECHDC2: 52,895,910–52,927,212, reverse strandECHDC2SCP2: 52,927,255–53,051,708, forward strandSCP2PODN: 53,061,293–53,093,681, forward strandPODNSLC1A7: 53,087,179–53,142,638, reverse strandSLC1A7Diagram of COA7: 3 exons on the reverse strand of chromosome 1Exon 1: 1 known disease-causing siteExon 3: 52,684,449–52,688,168, 3,720 basesExon 2: 52,692,727–52,692,867, 141 basesExon 1: 52,698,221–52,698,347, 127 bases3215′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 kb of the gene's 13.9 kb; 696 of those bases code for the protein.

How a genome test reads COA7

1

position in COA7 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 13.9 kb of COA7, introns included, not only the 4 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.). COA7 gene: cytochrome c oxidase assembly factor 7. Retrieved 16 October 2026, from https://dantelabs.com/genes/coa7

Vancouver

Dante Labs. COA7 gene: cytochrome c oxidase assembly factor 7 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/coa7

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