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Gene

SF3B1

SF3B1 is a gene biomarker in the evidence tier "Cancer actionable (CGI)". This page lists evidence by type: Assay-provider ledger (7), Actionable biomarkers (1), Trial mentions (47), and 7 more evidence types, each linked to its source.

Ensembl ENSG00000115524 UniProt O75533 Matched to Ensembl and UniProt
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Assay-provider ledger Assay-provider ledger 7 Actionable biomarkers Actionable biomarkers 1 Trial mentions Trial mentions 47 Target-disease associations Target-disease associations 482 Vendor sourcing Vendor sourcing 153 Trial-cited literature Trial-cited literature 220 Protein variant mentions Protein variant mentions 31 Human sample screening reference Human sample screening reference 2 Assay-provider ledger Assay-provider ledger 7 Actionable biomarkers Actionable biomarkers 1 Trial mentions Trial mentions 47 Target-disease associations Target-disease associations 482 Vendor sourcing Vendor sourcing 153 Trial-cited literature Trial-cited literature 220 Protein variant mentions Protein variant mentions 31 Human sample screening reference Human sample screening reference 2

Rows recorded per section (log scale)

2 more sections with rows · 2 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 SF3B1. 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: 13 at the structurally incomplete recent edge.

The yearly numbers
SF3B1 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 6 of 8,738 0.07% not measured
2025 11 of 8,875 0.12% not measured
2024 5 of 8,597 0.06% not measured
2023 4 of 8,275 0.05% 22 of 11,460 0.19%
2022 4 of 8,285 0.05% 18 of 13,598 0.13%
2021 6 of 8,692 0.07% 26 of 15,045 0.17%
2020 2 of 7,640 0.03% 13 of 14,459 0.09%
2019 1 of 7,300 0.01% 20 of 12,159 0.16%
2018 2 of 6,927 0.03% 25 of 11,854 0.21%
2017 2 of 6,558 0.03% 17 of 11,595 0.15%

Showing 10 of 37 years.

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Assay-provider ledger (7)

Shown in this order: most recent publication first.

Assay-provider ledger
Company Provider class Validation Papers Most recent publication
Foundation Medicine Diagnostic provider Clinical validationAnalytical validation 1 August 01, 2026
Olympus Corporation of Americas Reagent supplier Clinical validationAnalytical validation 1 August 01, 2026
THERMO FISHER SCIENTIFIC (Click-iT EdU kit, TaqMan Low-Density Array reagents, ExpressionSuite/DataAssist software) Reagent supplier Clinical validationAnalytical validation 2 August 01, 2026
University of Pittsburgh Medical Center (UPMC) Molecular & Genomics Pathology (MGP) laboratory Not a company Clinical validationAnalytical validation 1 August 01, 2026
Genetron Health Diagnostic provider Clinical validation 1 September 27, 2024

Showing 5 of 7 assay-provider companies.

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Actionable biomarkers (1)

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

Actionable biomarkers
Alteration Drug Response Disease Source
SF3B1 (K700E,K666N) Spliceosome Inhibitors response-associated No disease recorded Cancer Genome Interpreter

Trial mentions (47)

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

Trial mentions
Trial Source
NCT02823210 Trial biospecimen (AACT)
NCT02553304 Trial biospecimen (AACT)
NCT06152809 Trial eligibility (AACT)
NCT02841540 Trial eligibility (AACT)
NCT06313437 Trial eligibility (AACT)

Showing 5 of 47 trial mentions.

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Target-disease associations (482)

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

Target-disease associations
Disease Therapeutic area Source
Adenoid Cystic Breast Carcinoma cancer or benign tumor Cancer Gene Census
Adrenal Gland Neuroblastoma cancer or benign tumor Cancer Gene Census
Adult-onset autosomal recessive sideroblastic anemia genetic, familial or congenital disease Mouse knockout (IMPC)
Alpha-thalassemia genetic, familial or congenital disease Mouse knockout (IMPC)
Alpha-thalassemia - myelodysplastic syndrome genetic, familial or congenital disease Mouse knockout (IMPC)

Showing 5 of 482 associations.

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Vendor sourcing (153)

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 in the gnomAD v2.1.1 (https://gnomad.broadinstitute.org) dataset at total allele frequency of 0.004%. Predicted Consequence/Location: Missense... View ClinVar record SCV005904113.1
Acceleron Pharma, Inc., a wholly-owned subsidiary of Merck & Co., Inc., Rahway, NJ USA Trial collaborator Named in trial inclusion criteriaTrial eligibility criteria : Subjects must satisfy the following criteria to be enrolled in the study: 1. Subject is ≥ 18 years of age the time of signing the informed consent form (... View trial NCT02631070
Acceleron Pharma, Inc., a wholly-owned subsidiary of Merck & Co., Inc., Rahway, NJ USA Trial collaborator Mentioned in trial textTrial free-text mention SF3B1 View trial NCT02631070
Ambry Genetics (United States) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission The c.1361A>G (p.K454R) alteration is located in exon 10 (coding exon 10) of the SF3B1 gene. This alteration results from a A to G substitution at nucleotide... View ClinVar record SCV003575561.2
Assistance Publique – Hôpitaux de Paris Trial sponsor Biospecimen collected in a trialTrial biospecimen collection No supporting text recorded; see the citation. View trial NCT02823210

Showing 5 of 153 sourcing records.

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Trial-cited literature (220)

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

Trial-cited literature
Publication Journal Year Citations
Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia. Blood 2026 4
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
Acquired mutations in patients with relapsed/refractory CLL who progressed in the ALPINE study. Blood advances 2025 14
Phase 1 first-in-human dose-expansion study of the oral SF3B1 modulator H3B‑8800 in lower-risk myelodysplastic syndrome. Leukemia research 2025 6

Showing 5 of 220 papers.

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Protein variant mentions (31)

Shown in this order: alphabetical by variant.

Protein variant mentions
Variant Distinct papers Year range Sample papers
p.A1188V 1 2011 PMID 21998214
p.A1340T 1 2011 PMID 21995386
p.A700D 1 2016 PMID 27959900
p.D1962G 1 2011 PMID 21995386
p.E491G 1 2011 PMID 21998214

Showing 5 of 31 variants.

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Human sample screening reference (2)

Shown in this order: alphabetical by variant.

Human sample screening reference
Variant GDC project Disease / site Affected cases Profiled cases Observed frequency 95% interval
p.A1188V CPTAC-3 Not Applicable; Transitional Cell Papillomas and Carcinomas; Ductal and Lobular Neoplasms; Adenomas and Adenocarcinomas; Gliomas; Epithelial Neoplasms, NOS; Complex Epithelial Neoplasms; Complex Mixed and Stromal Neoplasms; Lipomatous Neoplasms; Squamous Cell Neoplasms; Myeloid Leukemias; Nevi and Melanomas; Stomach; Other and ill-defined sites in lip, oral cavity and pharynx; Unknown; Colon; Other and unspecified urinary organs; Floor of mouth; Other and unspecified parts of mouth; Gum; Bronchus and lung; Oropharynx; Other and unspecified parts of tongue; Base of tongue; Breast; Other and ill-defined sites; Larynx; Lip; Uterus, NOS; Hematopoietic and reticuloendothelial systems; Kidney; Brain; Skin; Pancreas; Tonsil 1 1,815 0.06% 0.01% to 0.31%
p.T663P TCGA-UVM Nevi and Melanomas; Paragangliomas and Glomus Tumors; Eye and adnexa 1 80 1.25% 0.22% to 6.75%

Literature-extracted relations (98)

Shown in this order: chemicals, then diseases.

Literature-extracted relations
Related entity Kind Source relation label Paper Year
LENALIDOMIDE Chemical associate Clinical implications of cancer gene mutations in patients with chronic lymphocytic leukemia treated with lenalidomide. 2018
Iron Chemical associate Disruption of SF3B1 results in deregulated expression and splicing of key genes and pathways in myelodysplastic syndrome hematopoietic stem and progenitor cells. 2015
Alemtuzumab Chemical associate NOTCH1, SF3B1, and TP53 mutations in fludarabine-refractory CLL patients treated with alemtuzumab: results from the CLL2H trial of the GCLLSG. 2013
Myelodysplastic Syndromes Disease associate Impact of Mutational Landscape and Burden on RBC Transfusion Response in Patients With Lower-Risk Myelodysplastic Syndromes (LR-MDS) in the COMMANDS Study. 2026
Myelodysplastic Syndromes Disease associate Phase 1 first-in-human dose-expansion study of the oral SF3B1 modulator H3B‑8800 in lower-risk myelodysplastic syndrome. 2025

Showing 5 of 98 relation assertions.

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Organizations publishing (313)

Shown in this order: most papers first.

Organizations publishing
Organization Type Papers Years
Dana-Farber Cancer Institute Other 25 2011 to 2025
Memorial Sloan Kettering Cancer Center Hospital 22 2013 to 2026
The University of Texas System Academic 14 2013 to 2026
Harvard Medical School Academic 13 2014 to 2025
Wellcome Trust Nonprofit 12 2011 to 2019

Showing 5 of 313 organizations.

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Where SF3B1 appears

  • biological_process
  • cancer or benign tumor
  • cardiovascular disease
  • disorder of visual system
  • endocrine system disease
  • gastrointestinal disease
  • genetic, familial or congenital disease
  • hematologic disease
  • immune system disease
  • infectious disease
  • measurement
  • musculoskeletal or connective tissue disease
  • nervous system disease
  • phenotype
  • urinary system disease

428 diseases touched.

Not on this page

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

Browse all biomarker evidence pages