Gene
SMARCA1
SMARCA1 is a gene biomarker in the evidence tier "Cancer actionable (CGI)". This page lists evidence by type: Actionable biomarkers (1), Target-disease associations (64), Vendor sourcing (6), and 3 more evidence types, each linked to its source.
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Rows recorded per section (log scale)
6 sections measured, none recorded
Cancer actionable (CGI)
Evidence over time
Share of that year: what fraction of the papers our biomarker dictionary matched in a year mention SMARCA1. The denominator is documents that mention any gene, not every registered document, so improving the matcher moves both halves and never rewrites history. 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.
Publication mentions: plotted from 1990 to 2023, the years our matched corpus covers.
SMARCA1 has 6 publication mentions across 5 years. That is too few to read as a trend, so the years are listed instead.
The yearly numbers
| Year | Publication mentions | Share of that year |
|---|---|---|
| 2023 | 0 of 11,460 | 0.00% |
| 2022 | 1 of 13,598 | 0.01% |
| 2021 | 2 of 15,045 | 0.01% |
| 2020 | 1 of 14,459 | 0.01% |
| 2019 | 1 of 12,159 | 0.01% |
| 2018 | 1 of 11,854 | 0.01% |
| 2017 | 0 of 11,595 | 0.00% |
| 2016 | 0 of 10,983 | 0.00% |
| 2015 | 0 of 11,395 | 0.00% |
| 2014 | 0 of 10,367 | 0.00% |
Showing 10 of 34 years.
Actionable biomarkers (1)
Shown in this order: fixed catalogue order, not ranked.
| Alteration | Drug | Response | Disease | Source |
|---|---|---|---|---|
| SMARCA1 oncogenic mutation | Ezh2 Inhibitors | response-associated | No disease recorded | Cancer Genome Interpreter |
Target-disease associations (64)
Shown in this order: fixed catalogue order, not ranked.
| Disease | Therapeutic area | Source |
|---|---|---|
| Abnormal brain morphology | phenotype | Variant curation (ClinVar / EVA) |
| HIV infection | infectious disease | Literature (Europe PMC) |
| Macrocephaly | phenotype | Literature (Europe PMC) |
| Mobius syndrome | disorder of visual system | Literature (Europe PMC) |
| Neurodevelopmental delay | phenotype | Literature (Europe PMC) |
Showing 5 of 64 associations.
Vendor sourcing (6)
Shown in this order: alphabetical by organization.
| 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.3053C>T (p.T1018I) alteration is located in coding exon 24 of the SMARCA1 gene. This alteration results from a C to T substitution at nucleotide positi... | View ClinVar record SCV000742830.5 |
| DASA (Brazil) | Testing lab / CRO (runs the assay) | Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission | NM_001282874.2(SMARCA1):c.1828C>G (p.Arg610Gly) is a missense variant that results in the substitution of arginine with glycine. Published studies describe t... | View ClinVar record SCV007658130.2 |
| GeneDx Holdings Corp. | Testing lab / CRO (runs the assay) | Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserv... | View ClinVar record SCV000514712.4 |
| Greenwood Genetic Center | Testing lab / CRO (runs the assay) | Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission | Gene of Uncertain Significance | View ClinVar record SCV002568142.1 |
| Labcorp Holdings Inc. | Testing lab / CRO (runs the assay) | Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission | Variant summary: SMARCA1 c.2038A>G (p.Lys680Glu) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools p... | View ClinVar record SCV001360664.2 |
Showing 5 of 6 sourcing records.
Trial-cited literature (6)
Shown in this order: newest first, then most cited.
| Publication | Journal | Year | Citations |
|---|---|---|---|
| The Role of Epigenetic Modifications in Human Cancers and the Use of Natural Compounds as Epidrugs: Mechanistic Pathways and Pharmacodynamic Actions. | Biomolecules | 2022 | 81 |
| KRAS mutation in pancreatic cancer. | Seminars in oncology | 2021 | 302 |
| Epigenetic Alterations in the Gastrointestinal Tract: Current and Emerging Use for Biomarkers of Cancer. | Gastroenterology | 2021 | 182 |
| SCLC-CellMiner: A Resource for Small Cell Lung Cancer Cell Line Genomics and Pharmacology Based on Genomic Signatures. | Cell reports | 2020 | 139 |
| Deciphering DNA methylation signatures of pancreatic cancer and pancreatitis. | Clinical epigenetics | 2019 | 54 |
Showing 5 of 6 papers.
Protein variant mentions (2)
Shown in this order: alphabetical by variant.
| Variant | Distinct papers | Year range | Sample papers |
|---|---|---|---|
| p.D625G | 1 | 2015 | PMID 25741868 |
| p.N785S | 1 | 2015 | PMID 25741868 |
Organizations publishing (13)
Shown in this order: most papers first.
| Organization | Type | Papers | Years |
|---|---|---|---|
| University of Naples Federico II | Academic | 2 | 2019 to 2022 |
| Case Western Reserve University | Academic | 1 | 2021 |
| Dana-Farber Cancer Institute | Other | 1 | 2020 |
| Government of the United States of America | Government | 1 | 2020 |
| Harris Health System | Hospital | 1 | 2018 |
Showing 5 of 13 organizations.
Where SMARCA1 appears
- cancer or benign tumor
- disorder of visual system
- endocrine system disease
- genetic, familial or congenital disease
- infectious disease
- measurement
- nervous system disease
- phenotype
61 diseases touched.
Not on this page
Checked, with nothing recorded for this biomarker: fda companion diagnostic assertions, fda biomarker qualification projects, assay-provider ledger, trial mentions, human sample screening reference, and literature-extracted relations.