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Gene

DNMT3A

DNMT3A is a gene biomarker in the evidence tier "Cancer actionable (CGI)". This page lists evidence by type: Assay-provider ledger (18), Actionable biomarkers (1), Trial mentions (28), and 6 more evidence types, each linked to its source.

Ensembl ENSG00000119772 UniProt Q9Y6K1 Matched to Ensembl and UniProt
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Assay-provider ledger Assay-provider ledger 18 Actionable biomarkers Actionable biomarkers 1 Trial mentions Trial mentions 28 Target-disease associations Target-disease associations 688 Vendor sourcing Vendor sourcing 106 Trial-cited literature Trial-cited literature 474 Protein variant mentions Protein variant mentions 40 Literature-extracted relations Literature-extracted relations 73 Assay-provider ledger Assay-provider ledger 18 Actionable biomarkers Actionable biomarkers 1 Trial mentions Trial mentions 28 Target-disease associations Target-disease associations 688 Vendor sourcing Vendor sourcing 106 Trial-cited literature Trial-cited literature 474 Protein variant mentions Protein variant mentions 40 Literature-extracted relations Literature-extracted relations 73

Rows recorded per section (log scale)

1 more section with rows · 3 sections measured, none recorded

Cancer actionable (CGI)

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

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Evidence over time

Share of that year: what fraction of the trials and papers our biomarker dictionary matched in a year mention DNMT3A. 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. Not plotted: 22 at the structurally incomplete recent edge.

The yearly numbers
DNMT3A 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 4 of 8,738 0.05% not measured
2025 3 of 8,875 0.03% not measured
2024 5 of 8,597 0.06% not measured
2023 0 of 8,275 0.00% 44 of 11,460 0.38%
2022 1 of 8,285 0.01% 57 of 13,598 0.42%
2021 2 of 8,692 0.02% 63 of 15,045 0.42%
2020 0 of 7,640 0.00% 36 of 14,459 0.25%
2019 3 of 7,300 0.04% 41 of 12,159 0.34%
2018 3 of 6,927 0.04% 40 of 11,854 0.34%
2017 1 of 6,558 0.02% 31 of 11,595 0.27%

Assay-provider ledger (18)

Shown in this order: most recent publication first.

Assay-provider ledger
Company Provider class Validation Papers Most recent publication
Agilent Reagent supplier Clinical validation 2 August 13, 2025
Illumina Unclassified Clinical validationAnalytical validation 7 August 13, 2025
QIAGEN Reagent supplier Clinical validationAnalytical validation 6 August 13, 2025
Acornmed Biotechnology Diagnostic provider Clinical validation 1 December 17, 2024
Geisinger Not a company Clinical validation 1 September 01, 2021

Actionable biomarkers (1)

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

Actionable biomarkers
Alteration Drug Response Disease Source
DNMT3A oncogenic mutation Daunorubicin response-associated acute myeloid leukemia Cancer Genome Interpreter

Trial mentions (28)

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

Trial mentions
Trial Source
NCT02823210 Trial biospecimen (AACT)
NCT04100876 Trial biospecimen (AACT)
NCT05250362 Trial eligibility (AACT)
NCT06768476 Trial eligibility (AACT)
NCT02497404 Trial eligibility (AACT)

Target-disease associations (688)

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

Target-disease associations
Disease Therapeutic area Source
Abnormality of the nervous system phenotype Variant curation (ClinVar / EVA)
Absence of circulating granulocytes phenotype gene burden
Absence of circulating granulocytes phenotype GWAS credible sets
Acute Leukemia cancer or benign tumor Literature (Europe PMC)
Adenoid Cystic Breast Carcinoma cancer or benign tumor Cancer Gene Census

Vendor sourcing (106)

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 Canonical splice site: predicted to alter splicing and result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or pro... View ClinVar record SCV002011942.1
ARUP Laboratories (United States) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission No supporting text recorded; see the citation. View ClinVar record SCV007333689.1
Ambry Genetics (United States) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission The c.2645G>A (p.R882H) alteration is located in exon 23 (coding exon 22) of the DNMT3A gene. This alteration results from a G to A substitution at nucleotid... View ClinVar record SCV000740689.5
Assistance Publique – Hôpitaux de Paris Trial sponsor Biospecimen collected in a trialTrial biospecimen collection No supporting text recorded; see the citation. View trial NCT02823210
Assistance Publique – Hôpitaux de Paris Trial sponsor Mentioned in trial textTrial free-text mention DNMT3A View trial NCT02823210

Trial-cited literature (474)

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

Trial-cited literature
Publication Journal Year Citations
Dual FLT3/PIM inhibitor dapolsertib in acute myeloid leukemia: results from the phase 1/2 DIAMOND-01 trial. Blood neoplasia 2026 2
Impact of Mutational Landscape and Burden on RBC Transfusion Response in Patients With Lower-Risk Myelodysplastic Syndromes (LR-MDS) in the COMMANDS Study. American journal of hematology 2026 0
Molecular characterization and predictors of relapse in patients with Ph + ALL after frontline ponatinib and blinatumomab. Journal of hematology & oncology 2025 22
Clonal Hematopoiesis and Cardiovascular Outcomes in Older Women. Journal of the American College of Cardiology 2025 18
Characterization and treatment outcomes of malignant histiocytoses in a retrospective series of 141 cases in France. Blood advances 2025 13

Protein variant mentions (40)

Shown in this order: alphabetical by variant.

Protein variant mentions
Variant Distinct papers Year range Sample papers
p.A248S 1 2011 PMID 21995386
p.D58V 1 2011 PMID 21995386
p.E1610V 1 2011 PMID 21995386
p.E40D 1 2015 PMID 25741868
p.E545G 1 2015 PMID 25741868

Literature-extracted relations (73)

Shown in this order: chemicals, then diseases.

Literature-extracted relations
Related entity Kind Source relation label Paper Year
Pyridoxal Phosphate Chemical associate Associations between Genetic Variants and Blood Biomarkers of One-Carbon Metabolism in Postmenopausal Women from the Women's Health Initiative Observational Study. 2022
HYDROXYUREA Chemical negative_correlate Genomic profiling of a randomized trial of interferon-α vs hydroxyurea in MPN reveals mutation-specific responses. 2022
AZACITIDINE (VIDAZA) Chemical negative_correlate The Mutational Landscape of Acute Myeloid Leukaemia Predicts Responses and Outcomes in Elderly Patients from the PETHEMA-FLUGAZA Phase 3 Clinical Trial. 2021
Tretinoin Chemical associate Disease-stabilizing treatment based on all-trans retinoic acid and valproic acid in acute myeloid leukemia - identification of responders by gene expression profiling of pretreatment leukemic cells. 2017
Ascorbic Acid Chemical associate Epigenetics of CD4+ T cells in autoimmune diseases. 2017

Organizations publishing (473)

Shown in this order: most papers first.

Organizations publishing
Organization Type Papers Years
The University of Texas System Academic 35 2012 to 2026
Memorial Sloan Kettering Cancer Center Hospital 30 2012 to 2023
Dana-Farber Cancer Institute Other 26 2014 to 2023
Harvard Medical School Academic 24 2014 to 2025
Mass General Brigham Hospital 19 2014 to 2025

Where DNMT3A 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
  • hematologic disease
  • immune system disease
  • infectious disease
  • injury, poisoning or other complication
  • measurement
  • medical procedure
  • musculoskeletal or connective tissue disease
  • nervous system disease
  • nutritional or metabolic disease
  • phenotype
  • pregnancy or perinatal disease
  • reproductive system or breast disease
  • respiratory or thoracic disease
  • urinary system disease

547 diseases touched.

Not on this page

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

Browse all biomarker evidence pages