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Gene

U2AF1

U2AF1 is a gene biomarker in the evidence tier "Cancer actionable (CGI)". This page lists evidence by type: Assay-provider ledger (8), Actionable biomarkers (1), Trial mentions (27), and 6 more evidence types, each linked to its source.

Ensembl ENSG00000160201 UniProt Q01081 Matched to Ensembl and UniProt
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Assay-provider ledger Assay-provider ledger 8 Actionable biomarkers Actionable biomarkers 1 Trial mentions Trial mentions 27 Target-disease associations Target-disease associations 245 Vendor sourcing Vendor sourcing 96 Trial-cited literature Trial-cited literature 124 Protein variant mentions Protein variant mentions 1 Literature-extracted relations Literature-extracted relations 25 Assay-provider ledger Assay-provider ledger 8 Actionable biomarkers Actionable biomarkers 1 Trial mentions Trial mentions 27 Target-disease associations Target-disease associations 245 Vendor sourcing Vendor sourcing 96 Trial-cited literature Trial-cited literature 124 Protein variant mentions Protein variant mentions 1 Literature-extracted relations Literature-extracted relations 25

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.

Get the U2AF1 report as a PDF

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 U2AF1. 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: 8 at the structurally incomplete recent edge.

The yearly numbers
U2AF1 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 3 of 8,738 0.03% not measured
2025 3 of 8,875 0.03% not measured
2024 4 of 8,597 0.05% not measured
2023 2 of 8,275 0.02% 14 of 11,460 0.12%
2022 2 of 8,285 0.02% 12 of 13,598 0.09%
2021 5 of 8,692 0.06% 14 of 15,045 0.09%
2020 3 of 7,640 0.04% 5 of 14,459 0.03%
2019 1 of 7,300 0.01% 13 of 12,159 0.11%
2018 3 of 6,927 0.04% 15 of 11,854 0.13%
2017 0 of 6,558 0.00% 8 of 11,595 0.07%

Assay-provider ledger (8)

Shown in this order: most recent publication first.

Assay-provider ledger
Company Provider class Validation Papers Most recent publication
Genetron Health Diagnostic provider Clinical validation 1 September 27, 2024
THERMO FISHER SCIENTIFIC (Click-iT EdU kit, TaqMan Low-Density Array reagents, ExpressionSuite/DataAssist software) Reagent supplier Clinical validation 1 September 27, 2024
ZYMO Research (Orange, CA) Reagent supplier Clinical validation 1 September 27, 2024
Horizon Discovery Reagent supplier Clinical validationAnalytical validation 2 May 24, 2016 +1 undated
Life Technologies Reagent supplier Clinical validationAnalytical validation 1 May 24, 2016

Actionable biomarkers (1)

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

Actionable biomarkers
Alteration Drug Response Disease Source
U2AF1 oncogenic mutation Flt3 Inhibitors response-associated No disease recorded Cancer Genome Interpreter

Trial mentions (27)

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

Trial mentions
Trial Source
NCT04802161 Trial eligibility (AACT)
NCT05641831 Trial eligibility (AACT)
NCT06802315 Trial eligibility (AACT)
NCT07104799 Trial eligibility (AACT)
NCT04588922 Trial eligibility (AACT)

Target-disease associations (245)

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

Target-disease associations
Disease Therapeutic area Source
Acanthamoeba keratitis disorder of visual system Mouse knockout (IMPC)
Albinism-deafness syndrome genetic, familial or congenital disease Mouse knockout (IMPC)
Ampulla of Vater Carcinoma cancer or benign tumor Cancer Gene Census
Aniridia - ptosis - intellectual disability - familial obesity disorder of visual system Mouse knockout (IMPC)
Appendix Goblet Cell Carcinoid cancer or benign tumor Cancer Gene Census

Vendor sourcing (96)

Shown in this order: alphabetical by organization.

Vendor sourcing
Organization Role Tier Evidence Citation
Ambry Genetics (United States) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission The c.643G>A (p.G215S) alteration is located in exon 8 (coding exon 8) of the U2AF1 gene. This alteration results from a G to A substitution at nucleotide po... View ClinVar record SCV003657396.2
Astex Pharmaceuticals Trial collaborator Named in trial inclusion criteriaTrial eligibility criteria : * Diagnosis of AML and MDS according to World Health Organization (WHO) classification that underwent first or second allogeneic HSCT with either peripher... View trial NCT06297629
Astex Pharmaceuticals Trial collaborator Mentioned in trial textTrial free-text mention U2AF1 View trial NCT06297629
Astrazeneca Plc Trial collaborator Named in trial inclusion criteriaTrial eligibility criteria Patients must have a diagnosis of recurrent, persistent, or progressive myelodysplastic syndrome (MDS) or chronic myelomonocytic leukemia (CMML) according ... View trial NCT03770429
Astrazeneca Plc Trial collaborator Mentioned in trial textTrial free-text mention U2AF1 View trial NCT03770429

Trial-cited literature (124)

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
Integrated Immune Landscape Analysis of RNA Splicing Factor-Mutant AML and Higher risk MDS Treated with Azacitidine ± Durvalumab. Therapeutic advances in hematology 2025 2
Multipurpose RNA maturation factors dysregulate multiple mRNA processing steps simultaneously and provide new therapeutic opportunities. RNA biology 2025 1
Sex-associated differences in frequencies and prognostic impact of recurrent genetic alterations in adult acute myeloid leukemia (Alliance, AMLCG). Leukemia 2024 35

Protein variant mentions (1)

Shown in this order: alphabetical by variant.

Protein variant mentions
Variant Distinct papers Year range Sample papers
p.S34F 10 2012 to 2023 PMID 36902450, PMID 37814121, PMID 35900726

Literature-extracted relations (25)

Shown in this order: chemicals, then diseases.

Literature-extracted relations
Related entity Kind Source relation label Paper Year
Doxycycline Chemical associate Mutant U2AF1 Expression Alters Hematopoiesis and Pre-mRNA Splicing In Vivo. 2015
Myelodysplastic Syndromes Disease associate A sex-informed approach to improve the personalised decision making process in myelodysplastic syndromes: a multicentre, observational cohort study. 2023
Leukemia, Myeloid, Acute Disease associate Added prognostic value of secondary AML-like gene mutations in ELN intermediate-risk older AML: ALFA-1200 study results. 2020
Myelodysplastic Syndromes Disease associate Added prognostic value of secondary AML-like gene mutations in ELN intermediate-risk older AML: ALFA-1200 study results. 2020
Erdheim-Chester Disease Disease associate Molecular Profiling of Tumor Tissue and Plasma Cell-Free DNA from Patients with Non-Langerhans Cell Histiocytosis. 2019

Organizations publishing (182)

Shown in this order: most papers first.

Organizations publishing
Organization Type Papers Years
Dana-Farber Cancer Institute Other 13 2015 to 2025
Memorial Sloan Kettering Cancer Center Hospital 13 2015 to 2023
Mass General Brigham Hospital 8 2015 to 2023
The University of Texas System Academic 7 2013 to 2026
Cleveland Clinic Hospital 6 2012 to 2023

Where U2AF1 appears

  • biological_process
  • cancer or benign tumor
  • disorder of visual system
  • gastrointestinal disease
  • genetic, familial or congenital disease
  • hematologic disease
  • infectious disease
  • integumentary system disease
  • measurement
  • musculoskeletal or connective tissue disease
  • nervous system disease
  • nutritional or metabolic disease
  • phenotype

229 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