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Gene

ERCC8

ERCC excision repair 8, CSA ubiquitin ligase complex subunit

Summary

Cytogenetic location
5q12.1
Coordinates
Chromosome 5: 60,866,454–60,945,070 (GRCh38)
Exons
12 exons across 78.6 kb
Protein
396 amino acids
Inheritance
Autosomal recessive
Also known as
CSA
Previous symbols
CKN1
MANE Select transcript
ENST00000676185.1NM_000082.4
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.

      • ClinGen rates the link definitive
      • 7 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 ERCC8 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 5, with a bracket where ERCC8 sits. ERCC8 and 6 genes near it on chromosome 5, from 60,405,762 to 61,405,761.Chromosome 55q12.1p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.360.6 Mb60.8 Mb61 Mb61.2 Mb61.4 MbPDE4D: 58,969,038–60,522,120, reverse strandPDE4DDEPDC1B: 60,596,912–60,700,199, reverse strandDEPDC1BELOVL7: 60,751,791–60,844,589, reverse strandELOVL7ERCC8: 60,866,454–60,945,070, reverse strandERCC8NDUFAF2: 60,945,117–61,154,531, forward strandNDUFAF2SMIM15: 61,153,910–61,163,142, reverse strandSMIM15ZSWIM6: 61,332,258–61,546,519, forward strandZSWIM6Diagram of ERCC8: 12 exons on the reverse strand of chromosome 5Exon 11: 1 known disease-causing siteExon 10: 11 known disease-causing sitesExon 9: 5 known disease-causing sitesExon 8: 5 known disease-causing sitesExon 7: 8 known disease-causing sitesExon 6: 3 known disease-causing sitesExon 5: 8 known disease-causing sitesExon 4: 9 known disease-causing sitesExon 3: 8 known disease-causing sitesExon 2: 8 known disease-causing sitesExon 1: 7 known disease-causing sitesExon 12: 60,866,454–60,874,683, 8,230 basesExon 11: 60,887,440–60,887,520, 81 basesExon 10: 60,890,889–60,891,086, 198 basesExon 9: 60,898,276–60,898,400, 125 basesExon 8: 60,899,627–60,899,727, 101 basesExon 7: 60,902,442–60,902,508, 67 basesExon 6: 60,903,648–60,903,716, 69 basesExon 5: 60,904,792–60,904,873, 82 basesExon 4: 60,918,265–60,918,388, 124 basesExon 3: 60,922,054–60,922,155, 102 basesExon 2: 60,928,864–60,928,959, 96 basesExon 1: 60,944,932–60,945,070, 139 bases1210864215′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 9.4 kb of the gene's 78.6 kb; 1,191 of those bases code for the protein.

How a genome test reads ERCC8

89

positions in ERCC8 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 78.6 kb of ERCC8, introns included, not only the 9.4 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.). ERCC8 gene: ERCC excision repair 8, CSA ubiquitin ligase complex subunit. Retrieved 16 October 2026, from https://dantelabs.com/genes/ercc8

Vancouver

Dante Labs. ERCC8 gene: ERCC excision repair 8, CSA ubiquitin ligase complex subunit [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ercc8

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