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Gene

ERCC6

ERCC excision repair 6, chromatin remodeling factor

Summary

Cytogenetic location
10q11.23
Coordinates
Chromosome 10: 49,454,470–49,539,121 (GRCh38)
Exons
21 exons across 84.7 kb
Protein
1,493 amino acids
Inheritance
Autosomal recessive
Also known as
CSB, RAD26, ARMD5
Previous symbols
CKN2
MANE Select transcript
ENST00000355832.10NM_000124.4
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
      • 6 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 ERCC6 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 10, with a bracket where ERCC6 sits. ERCC6 and 13 genes near it on chromosome 10, from 48,996,796 to 49,996,795.Chromosome 1010q11.23p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.349 Mb49.2 Mb49.4 Mb49.6 Mb49.8 MbVSTM4: 49,014,236–49,115,555, reverse strandVSTM4FAM170B: 49,131,154–49,134,021, reverse strandFAM170BTMEM273: 49,153,753–49,188,585, reverse strandTMEM273C10orf71: 49,299,137–49,329,924, forward strandC10orf71DRGX: 49,364,065–49,398,484, reverse strandDRGXERCC6: 49,454,470–49,539,121, reverse strandERCC6CHAT: 49,609,095–49,667,942, forward strandCHATSLC18A3: 49,610,310–49,612,720, forward strandSLC18A3C10orf53: 49,679,638–49,710,261, forward strandC10orf53OGDHL: 49,721,386–49,762,392, reverse strandOGDHLPARG: 49,815,132–49,970,203, reverse strandPARGTIMM23B: 49,942,031–49,977,625, forward strandTIMM23BTIMM23B-AGAP6: 49,942,056–50,011,654, forward strandTIMM23B-AGAP6AGAP6: 49,982,190–50,011,654, forward strandAGAP6Diagram of ERCC6: 21 exons on the reverse strand of chromosome 10Exon 21: 2 known disease-causing sitesExon 20: 1 known disease-causing siteExon 19: 3 known disease-causing sitesExon 18: 45 known disease-causing sitesExon 17: 6 known disease-causing sitesExon 16: 7 known disease-causing sitesExon 15: 6 known disease-causing sitesExon 14: 5 known disease-causing sitesExon 13: 7 known disease-causing sitesExon 12: 5 known disease-causing sitesExon 11: 5 known disease-causing sitesExon 10: 13 known disease-causing sitesExon 9: 14 known disease-causing sitesExon 8: 8 known disease-causing sitesExon 7: 7 known disease-causing sitesExon 6: 8 known disease-causing sitesExon 5: 36 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 3: 8 known disease-causing sitesExon 2: 12 known disease-causing sitesExon 21: 49,454,470–49,459,234, 4,765 basesExon 20: 49,460,373–49,460,451, 79 basesExon 19: 49,461,352–49,461,556, 205 basesExon 18: 49,470,182–49,470,889, 708 basesExon 17: 49,470,975–49,471,120, 146 basesExon 16: 49,472,376–49,472,470, 95 basesExon 15: 49,472,909–49,473,028, 120 basesExon 14: 49,473,477–49,473,587, 111 basesExon 13: 49,474,027–49,474,242, 216 basesExon 12: 49,476,215–49,476,310, 96 basesExon 11: 49,478,354–49,478,470, 117 basesExon 10: 49,482,687–49,482,863, 177 basesExon 9: 49,483,346–49,483,516, 171 basesExon 8: 49,493,117–49,493,252, 136 basesExon 7: 49,500,538–49,500,696, 159 basesExon 6: 49,505,884–49,506,012, 129 basesExon 5: 49,524,033–49,524,777, 745 basesExon 4: 49,528,417–49,528,525, 109 basesExon 3: 49,530,720–49,530,840, 121 basesExon 2: 49,532,543–49,532,978, 436 basesExon 1: 49,538,962–49,539,121, 160 bases21201510515′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 kb of the gene's 84.7 kb; 4,482 of those bases code for the protein.

How a genome test reads ERCC6

226

positions in ERCC6 where ClinVar classes a change as pathogenic or likely pathogenic

7 of them (3.1%) fall in regions short reads find hard.

  • Segmental duplications (7 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 84.7 kb of ERCC6, introns included, not only the 9 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.). ERCC6 gene: ERCC excision repair 6, chromatin remodeling factor. Retrieved 16 October 2026, from https://dantelabs.com/genes/ercc6

Vancouver

Dante Labs. ERCC6 gene: ERCC excision repair 6, chromatin remodeling factor [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ercc6

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