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Gene

ERCC6

ERCC6 is a gene biomarker in the evidence tier "Cancer actionable (CGI)". This page lists evidence by type: Actionable biomarkers (1), Trial mentions (11), Target-disease associations (170), and 5 more evidence types, each linked to its source.

Ensembl ENSG00000225830 UniProt P0DP91 Matched to Ensembl and UniProt
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Actionable biomarkers Actionable biomarkers 1 Trial mentions Trial mentions 11 Target-disease associations Target-disease associations 170 Vendor sourcing Vendor sourcing 70 Trial-cited literature Trial-cited literature 32 Protein variant mentions Protein variant mentions 52 Literature-extracted relations Literature-extracted relations 4 Organizations publishing Organizations publishing 63 Actionable biomarkers Actionable biomarkers 1 Trial mentions Trial mentions 11 Target-disease associations Target-disease associations 170 Vendor sourcing Vendor sourcing 70 Trial-cited literature Trial-cited literature 32 Protein variant mentions Protein variant mentions 52 Literature-extracted relations Literature-extracted relations 4 Organizations publishing Organizations publishing 63

Rows recorded per section (log scale)

4 sections measured, none recorded

Cancer actionable (CGI)

Curated as clinically actionable in cancer by the Cancer Genome Interpreter.

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The PDF carries up to 50 rows of each section, where the page shows the first few, with the sources listed. Enter a work email and confirm it from the message we send, and the report follows by email.

Evidence over time

Share of that year: what fraction of the trials and papers our biomarker dictionary matched in a year mention ERCC6. The denominator is documents that mention any gene, not every registered document, so improving the matcher moves both halves and never rewrites history. Gene named in free-text trial records. A mention, not a validated biomarker. Actionable-biomarker and target-disease-association evidence carries no date in our sources, so it is not on this chart. Publication mentions cover only papers cited by a registered clinical trial, not all of PubMed.

Trial mentions: plotted from 1990 to 2026, the years our matched corpus covers.

Publication mentions: plotted from 1990 to 2023, the years our matched corpus covers.

The yearly numbers
ERCC6 per year, by evidence type, the most recent 10 years, newest first; the chart covers 1990 to 2026. The share is of the trials and papers our biomarker dictionary matched that year, not of the literature at large, and a blank year is one our matched corpus does not cover at all.
Year Trial mentions Share of that year Publication mentions Share of that year
2026 2 of 8,738 0.02% not measured
2025 1 of 8,875 0.01% not measured
2024 0 of 8,597 0.00% not measured
2023 0 of 8,275 0.00% 1 of 11,460 0.01%
2022 1 of 8,285 0.01% 3 of 13,598 0.02%
2021 0 of 8,692 0.00% 3 of 15,045 0.02%
2020 0 of 7,640 0.00% 0 of 14,459 0.00%
2019 1 of 7,300 0.01% 7 of 12,159 0.06%
2018 1 of 6,927 0.01% 3 of 11,854 0.03%
2017 0 of 6,558 0.00% 3 of 11,595 0.03%

Actionable biomarkers (1)

Shown in this order: fixed catalogue order, not ranked.

Actionable biomarkers
Alteration Drug Response Disease Source
ERCC6 oncogenic mutation CISPLATIN response-associated ovarian carcinoma Cancer Genome Interpreter

Trial mentions (11)

Shown in this order: fixed catalogue order, not by date.

Trial mentions
Trial Source
NCT01142154 Trial eligibility (AACT)
NCT04115072 Trial eligibility (AACT)
NCT07057349 Trial eligibility (AACT)
NCT07468604 Trial eligibility (AACT)
NCT07577739 Trial eligibility (AACT)

Target-disease associations (170)

Shown in this order: fixed catalogue order, not ranked.

Target-disease associations
Disease Therapeutic area Source
Abruptio Placentae pregnancy or perinatal disease GWAS credible sets
Autosomal recessive cerebellar ataxia - blindness - deafness genetic, familial or congenital disease Mouse knockout (IMPC)
Autosomal recessive spastic paraplegia type 44 genetic, familial or congenital disease Mouse knockout (IMPC)
COFS syndrome disorder of visual system Literature (Europe PMC)
COFS syndrome disorder of visual system Variant curation (ClinVar / EVA)

Vendor sourcing (70)

Shown in this order: alphabetical by organization.

Vendor sourcing
Organization Role Tier Evidence Citation
3billion, Inc. (South Korea) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000004, PM2). The variant was observed in trans with a p... View ClinVar record SCV002012042.1
Albert Einstein College of Medicine Trial sponsor Mentioned in trial textTrial free-text mention CSB View trial NCT01028560
Ambry Genetics (United States) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein ... View ClinVar record SCV003535840.2
Astrazeneca Plc Trial collaborator Named in trial inclusion criteriaTrial eligibility criteria #8) may have an ECOG Performance Status of ≤ 2. * Histological or cytological evidence/confirmation of urothelial cancer. * Metastatic and/or unresectable (c... View trial NCT03448718
Astrazeneca Plc Trial collaborator Mentioned in trial textTrial free-text mention ERCC6 View trial NCT03448718

Trial-cited literature (32)

Shown in this order: newest first, then most cited.

Trial-cited literature
Publication Journal Year Citations
Balance telerehabilitation and wearable technology for people with Parkinson's disease (TelePD trial). BMC neurology 2023 17
Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine. EBioMedicine 2022 76
Bacterial Signatures of Cerebral Thrombi in Large Vessel Occlusion Stroke. mBio 2022 17
DNA damage response and repair genes in advanced bone and soft tissue sarcomas: An 8-gene signature as a candidate predictive biomarker of response to trabectedin and olaparib combination. Frontiers in oncology 2022 12
The molecular make up of smoldering myeloma highlights the evolutionary pathways leading to multiple myeloma. Nature communications 2021 99

Protein variant mentions (52)

Shown in this order: alphabetical by variant.

Protein variant mentions
Variant Distinct papers Year range Sample papers
p.A1215T 1 2015 PMID 25741868
p.C766F 1 2015 PMID 25741868
p.D1355E 1 2015 PMID 25741868
p.D425A 2 2015 to 2022 PMID 36099812, PMID 25741868
p.D639G 1 2015 PMID 25741868

Literature-extracted relations (4)

Shown in this order: chemicals, then diseases.

Literature-extracted relations
Related entity Kind Source relation label Paper Year
Primary Ovarian Insufficiency Disease associate Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine. 2022
Cockayne Syndrome Disease associate Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome. 2021
Nervous System Diseases Disease associate Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome. 2021
Neoplasms Disease associate Somatic mutations in early onset luminal breast cancer. 2018

Organizations publishing (63)

Shown in this order: most papers first.

Organizations publishing
Organization Type Papers Years
Government of the United States of America Government 2 2009 to 2010
Oregon Health & Science University Academic 2 2009 to 2023
Rady Children's Institute for Genomic Medicine Nonprofit 2 2019 to 2021
University of Guelph Academic 2 2019 to 2021
Aix-Marseille Université Academic 1 2022

Where ERCC6 appears

  • biological_process
  • cancer or benign tumor
  • cardiovascular disease
  • disorder of ear
  • disorder of visual system
  • endocrine system disease
  • gastrointestinal disease
  • genetic, familial or congenital disease
  • measurement
  • nervous system disease
  • phenotype
  • pregnancy or perinatal disease

144 diseases touched.

Not on this page

Checked, with nothing recorded for this biomarker: fda companion diagnostic assertions, fda biomarker qualification projects, assay-provider ledger, and human sample screening reference.

Browse all biomarker evidence pages