Gene
JAK1
JAK1 is a gene biomarker in the evidence tier "Cancer actionable (CGI)". This page lists evidence by type: Assay-provider ledger (12), Actionable biomarkers (3), Trial mentions (50), and 7 more evidence types, each linked to its source.
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Rows recorded per section (log scale)
2 more sections with rows · 2 sections measured, none recorded
Cancer actionable (CGI)
Evidence over time
Share of that year: what fraction of the trials and papers our biomarker dictionary matched in a year mention JAK1. 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: 40 at the structurally incomplete recent edge.
The yearly numbers
| Year | Trial mentions | Share of that year | Publication mentions | Share of that year |
|---|---|---|---|---|
| 2026 | 10 of 8,738 | 0.11% | not measured | |
| 2025 | 6 of 8,875 | 0.07% | not measured | |
| 2024 | 4 of 8,597 | 0.05% | not measured | |
| 2023 | 2 of 8,275 | 0.02% | 66 of 11,460 | 0.58% |
| 2022 | 5 of 8,285 | 0.06% | 107 of 13,598 | 0.79% |
| 2021 | 2 of 8,692 | 0.02% | 94 of 15,045 | 0.62% |
| 2020 | 1 of 7,640 | 0.01% | 84 of 14,459 | 0.58% |
| 2019 | 5 of 7,300 | 0.07% | 68 of 12,159 | 0.56% |
| 2018 | 4 of 6,927 | 0.06% | 60 of 11,854 | 0.51% |
| 2017 | 2 of 6,558 | 0.03% | 56 of 11,595 | 0.48% |
Showing 10 of 37 years.
Assay-provider ledger (12)
Shown in this order: most recent publication first.
| Company | Provider class | Validation | Papers | Most recent publication |
|---|---|---|---|---|
| GeneChem | Reagent supplier | Analytical validation | 1 | May 01, 2022 |
| Bristol Myers Squibb | Pharma or other | No clinical or analytical validation recorded for this pair | 1 | July 01, 2021 |
| Illumina | Unclassified | No clinical or analytical validation recorded for this pair | 2 | July 01, 2021 |
| ImmunogenX | Diagnostic provider | No clinical or analytical validation recorded for this pair | 1 | July 01, 2021 |
| ImusanT | Pharma or other | No clinical or analytical validation recorded for this pair | 1 | July 01, 2021 |
Showing 5 of 12 assay-provider companies.
Actionable biomarkers (3)
Shown in this order: fixed catalogue order, not ranked.
| Alteration | Drug | Response | Disease | Source |
|---|---|---|---|---|
| JAK1 (S646F;R683) | Ruxolitinib | response-associated | acute lymphoblastic leukemia | Cancer Genome Interpreter |
| JAK1 oncogenic mutation | Pd1 Inhibitors | responsive | colorectal adenocarcinoma | Cancer Genome Interpreter |
| JAK1 oncogenic mutation | Pd1 Inhibitors | responsive | cutaneous melanoma | Cancer Genome Interpreter |
Trial mentions (50)
Shown in this order: fixed catalogue order, not by date.
| Trial | Source |
|---|---|
| NCT01998828 | Trial eligibility (AACT) |
| NCT01969838 | Trial eligibility (AACT) |
| NCT05444530 | Trial eligibility (AACT) |
| NCT07021495 | Trial eligibility (AACT) |
| NCT04446182 | Trial eligibility (AACT) |
Showing 5 of 50 trial mentions.
Target-disease associations (723)
Shown in this order: fixed catalogue order, not ranked.
| Disease | Therapeutic area | Source |
|---|---|---|
| 22q11.2 deletion syndrome | cardiovascular disease | Mouse knockout (IMPC) |
| ALG12-congenital disorder of glycosylation | genetic, familial or congenital disease | Mouse knockout (IMPC) |
| Aarskog-Scott syndrome, X-linked | genetic, familial or congenital disease | Literature (Europe PMC) |
| Adult-onset autosomal recessive sideroblastic anemia | genetic, familial or congenital disease | Mouse knockout (IMPC) |
| Aicardi-Goutieres syndrome | genetic, familial or congenital disease | Clinical precedence |
Showing 5 of 723 associations.
Vendor sourcing (185)
Shown in this order: alphabetical by organization.
| Organization | Role | Tier | Evidence | Citation |
|---|---|---|---|---|
| 3billion, Inc. (South Korea) | Testing lab / CRO (runs the assay) | Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission | The variant is not observed in the gnomAD v4.0.0 dataset. Predicted Consequence/Location: Missense variant Damaging effect on gene or gene product predicted ... | View ClinVar record SCV006584437.1 |
| Ambry Genetics (United States) | Testing lab / CRO (runs the assay) | Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission | The c.1901C>A (p.A634D) alteration is located in exon 14 (coding exon 13) of the JAK1 gene. This alteration results from a C to A substitution at nucleotide ... | View ClinVar record SCV000262977.3 |
| Amsterdam University Medical Centers | Trial collaborator | Named in trial inclusion criteriaTrial eligibility criteria | For patients with AD: To be eligible to participate in this study, a subject must meet all of the following criteria: 6\. Diagnosis and history of chroni... | View trial NCT07021495 |
| Amsterdam University Medical Centers | Trial collaborator | Mentioned in trial textTrial free-text mention | JAK1 | View trial NCT07021495 |
| Assistance Publique – Hôpitaux de Paris | Trial sponsor | Named in trial inclusion criteriaTrial eligibility criteria | : * Patients with autoinflammatory diseases aged \>12 years and followed in the CEREMAIA internal medicine department present for consultation or day hospit... | View trial NCT07718555 |
Showing 5 of 185 sourcing records.
Trial-cited literature (756)
Shown in this order: newest first, then most cited.
| Publication | Journal | Year | Citations |
|---|---|---|---|
| Ivarmacitinib for the treatment of adults with severe alopecia areata: Results from a phase 3 trial. | Journal of the American Academy of Dermatology | 2026 | 5 |
| Association between endo-histological outcomes and colonic mucosal transcriptomic profiles in patients with ulcerative colitis receiving filgotinib. | Journal of Crohn's & colitis | 2026 | 1 |
| Phase 1B pilot study of itacitinib with alemtuzumab in patients with T-cell prolymphocytic leukemia. | Blood neoplasia | 2026 | 0 |
| A phase 2a trial of brepocitinib for cicatricial alopecia. | Journal of the American Academy of Dermatology | 2025 | 20 |
| Ivarmacitinib for Moderate to Severe Atopic Dermatitis in Adults and Adolescents: A Phase 3 Randomized Clinical Trial. | JAMA dermatology | 2025 | 17 |
Showing 5 of 756 papers.
Protein variant mentions (24)
Shown in this order: alphabetical by variant.
| Variant | Distinct papers | Year range | Sample papers |
|---|---|---|---|
| p.A1066S | 1 | 2022 | PMID 35929989 |
| p.A634D | 1 | 2013 | PMID 23788652 |
| p.E903K | 1 | 2017 | PMID 28561041 |
| p.F516L | 1 | 2017 | PMID 28561041 |
| p.G590R | 1 | 2017 | PMID 28561041 |
Showing 5 of 24 variants.
Human sample screening reference (5)
Shown in this order: alphabetical by variant.
| Variant | GDC project | Disease / site | Affected cases | Profiled cases | Observed frequency | 95% interval |
|---|---|---|---|---|---|---|
| p.L910P | MP2PRT-ALL | Acute Lymphoblastic Leukemia; Lymphoid Leukemias; Hematopoietic and reticuloendothelial systems | 1 | 1,510 | 0.07% | 0.01% to 0.37% |
| p.L910P | TARGET-ALL-P2 | Lymphoid Leukemias; Hematopoietic and reticuloendothelial systems | 2 | 768 | 0.26% | 0.07% to 0.94% |
| p.L910P | TCGA-LIHC | Adenomas and Adenocarcinomas; Liver and intrahepatic bile ducts | 2 | 377 | 0.53% | 0.15% to 1.91% |
| p.S703I | MP2PRT-ALL | Acute Lymphoblastic Leukemia; Lymphoid Leukemias; Hematopoietic and reticuloendothelial systems | 1 | 1,510 | 0.07% | 0.01% to 0.37% |
| p.S703I | TARGET-ALL-P2 | Lymphoid Leukemias; Hematopoietic and reticuloendothelial systems | 1 | 768 | 0.13% | 0.02% to 0.73% |
Literature-extracted relations (124)
Shown in this order: chemicals, then diseases.
| Related entity | Kind | Source relation label | Paper | Year |
|---|---|---|---|---|
| Oxygen | Chemical | associate |
Multi-arm Trial of Inflammatory Signal Inhibitors (MATIS) for hospitalised patients with mild or moderate COVID-19 pneumonia: a structured summary of a study protocol for a randomised controlled trial. | 2021 |
| Folic (or folinic) acid | Chemical | associate |
Differential responses to folic acid in an established keloid fibroblast cell line are mediated by JAK1/2 and STAT3. | 2021 |
| Silybin | Chemical | negative_correlate |
Silibinin and SARS-CoV-2: Dual Targeting of Host Cytokine Storm and Virus Replication Machinery for Clinical Management of COVID-19 Patients. | 2020 |
| "Capecitabine" | Chemical | associate |
Ruxolitinib + capecitabine in advanced/metastatic pancreatic cancer after disease progression/intolerance to first-line therapy: JANUS 1 and 2 randomized phase III studies. | 2018 |
| METHOTREXATE | Chemical | negative_correlate |
Filgotinib (GLPG0634/GS-6034), an oral JAK1 selective inhibitor, is effective in combination with methotrexate (MTX) in patients with active rheumatoid arthritis and insufficient response to MTX: results from a randomised, dose-finding study (DARWIN 1). | 2017 |
Showing 5 of 124 relation assertions.
Organizations publishing (609)
Shown in this order: most papers first.
| Organization | Type | Papers | Years |
|---|---|---|---|
| Oregon Health & Science University | Academic | 29 | 2014 to 2025 |
| Government of the United States of America | Government | 27 | 1999 to 2022 |
| University of California System | Academic | 26 | 2011 to 2023 |
| Mass General Brigham | Hospital | 25 | 2005 to 2025 |
| Mount Sinai Health System | Hospital | 25 | 2015 to 2025 |
Showing 5 of 609 organizations.
Where JAK1 appears
- animal disease
- 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
- injury, poisoning or other complication
- integumentary system disease
- measurement
- medical procedure
- musculoskeletal or connective tissue disease
- nervous system disease
- nutritional or metabolic disease
- phenotype
- reproductive system or breast disease
- respiratory or thoracic disease
- urinary system disease
627 diseases touched.
Not on this page
Checked, with nothing recorded for this biomarker: fda companion diagnostic assertions and fda biomarker qualification projects.