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Gene

ERCC1

ERCC excision repair 1, endonuclease non-catalytic subunit

Summary

Cytogenetic location
19q13.32
Coordinates
Chromosome 19: 45,407,334–45,423,917 (GRCh38)
Exons
10 exons across 16.6 kb
Protein
297 amino acids
Inheritance
Autosomal recessive
Also known as
RAD10
MANE Select transcript
ENST00000300853.8NM_001983.4
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 reports relevant to this gene

  • DNA Repair Disease

    • Autosomal recessive

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

      • 4 GenCC submitters rate it definitive or strong

  • Microphthalmia, Anophthalmia & Coloboma

    • Syndromic Microphthalmia

      Microphthalmia occurring with features outside the eye, caused by changes in genes such as SOX2, OTX2, BCOR, STRA6 and BMP4.

      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      A genetic diagnosis guides checks for associated features, such as pituitary hormone problems with SOX2 or OTX2, and informs recurrence risk.

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 ERCC1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 19, with a bracket where ERCC1 sits. ERCC1 and 42 genes near it on chromosome 19, from 44,915,626 to 45,915,625.Chromosome 1919q13.32p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4345 Mb45.2 Mb45.4 Mb45.6 Mb45.8 MbAPOC1: 44,913,133–44,920,054, forward strandAPOC2: 44,936,126–44,949,585, forward strandAPOC2APOC4: 44,942,234–44,945,496, forward strandAPOC4APOC4-APOC2: 44,942,238–44,949,565, forward strandAPOC4-APOC2CLPTM1: 44,954,585–44,993,342, forward strandCLPTM1RELB: 45,001,431–45,038,194, forward strandRELBCLASRP: 45,039,042–45,070,956, forward strandCLASRPZNF296: 45,071,500–45,076,485, reverse strandZNF296GEMIN7: 45,075,575–45,091,518, forward strandGEMIN7MARK4: 45,079,288–45,305,284, forward strandMARK4PPP1R37: 45,091,396–45,148,077, forward strandNKPD1: 45,149,744–45,160,982, reverse strandNKPD1BLOC1S3: 45,152,811–45,216,933, forward strandBLOC1S3TRAPPC6A: 45,162,928–45,178,268, reverse strandTRAPPC6AEXOC3L2: 45,210,600–45,245,429, reverse strandEXOC3L2CKM: 45,306,411–45,323,372, reverse strandCKMKLC3: 45,333,434–45,351,537, forward strandKLC3ERCC2: 45,349,773–45,370,918, reverse strandERCC2PPP1R13L: 45,379,634–45,406,367, reverse strandPPP1R13LPOLR1G: 45,406,644–45,410,737, forward strandPOLR1GERCC1: 45,407,334–45,423,917, reverse strandERCC1FOSB: 45,467,989–45,475,179, forward strandFOSBRTN2: 45,485,292–45,497,055, reverse strandRTN2PPM1N: 45,488,777–45,503,129, forward strandPPM1NVASP: 45,506,579–45,527,839, forward strandVASPOPA3: 45,527,767–45,602,212, reverse strandOPA3GPR4: 45,588,565–45,602,556, reverse strandGPR4EML2: 45,606,994–45,645,617, reverse strandEML2GIPR: 45,668,207–45,683,722, forward strandGIPRSNRPD2: 45,677,907–45,692,569, reverse strandSNRPD2QPCTL: 45,692,403–45,703,989, forward strandQPCTLFBXO46: 45,710,624–45,730,931, reverse strandFBXO46MEIOSIN: 45,733,439–45,764,541, forward strandMEIOSINSIX5: 45,764,767–45,769,252, reverse strandSIX5DMPK: 45,769,709–45,782,794, reverse strandDMPK: 45,779,437–45,785,973, reverse strandDMWD: 45,782,944–45,792,949, reverse strandRSPH6A: 45,795,713–45,815,308, reverse strandSYMPK: 45,815,410–45,866,862, reverse strandSYMPKFOXA3: 45,863,989–45,873,798, forward strandFOXA3IRF2BP1: 45,883,608–45,886,141, reverse strandIRF2BP1MYPOP: 45,890,020–45,902,808, reverse strandMYPOPNANOS2: 45,913,214–45,914,778, reverse strandNANOS2Diagram of ERCC1: 10 exons on the reverse strand of chromosome 19Exon 5: 1 known disease-causing siteExon 3: 3 known disease-causing sitesExon 2: 1 known disease-causing siteExon 10: 45,407,334–45,409,725, 2,392 basesExon 9: 45,413,677–45,413,745, 69 basesExon 8: 45,413,963–45,414,034, 72 basesExon 7: 45,414,861–45,414,960, 100 basesExon 6: 45,416,821–45,416,897, 77 basesExon 5: 45,419,098–45,419,197, 100 basesExon 4: 45,420,324–45,420,427, 104 basesExon 3: 45,421,178–45,421,393, 216 basesExon 2: 45,423,270–45,423,381, 112 basesExon 1: 45,423,781–45,423,917, 137 bases109876543215′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 3.4 kb of the gene's 16.6 kb; 894 of those bases code for the protein.

How a genome test reads ERCC1

5

positions in ERCC1 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 16.6 kb of ERCC1, introns included, not only the 3.4 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.). ERCC1 gene: ERCC excision repair 1, endonuclease non-catalytic subunit. Retrieved 17 October 2026, from https://dantelabs.com/genes/ercc1

Vancouver

Dante Labs. ERCC1 gene: ERCC excision repair 1, endonuclease non-catalytic subunit [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ercc1

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