{
    "assessed_biomarker_entity": "Actin gamma 1 gene amplification (ACTG1)",
    "assessed_entity_type": "gene",
    "components": {
        "protein": [
            {
                "accession": "P63261-1",
                "name": "Actin, cytoplasmic 2",
                "evidence": [
                    {
                        "id": "GLY_000625",
                        "database": "GlyGen",
                        "url": "https://data.glygen.org/GLY_000625"
                    },
                    {
                        "id": "33217970",
                        "database": "PubMed",
                        "url": "https://glygen.org/publication/PubMed/33217970"
                    }
                ]
            }
        ],
        "glycan": []
    },
    "instances": [
        {
            "best_biomarker_type": "prognostic",
            "status": "presence of",
            "notes": "Overexpression or amplification of ACTG1",
            "literature_evidence": "Given that ACTG1 and MYLK2 amplifications or overexpression were consistently observed in uterine cancers, we sought to analyze their potential as uterine cancer biomarkers. We found that patients with ACTG1 gains in the UCEC cohort, relative to those without, had a worse prognosis, while patients with MYLK2 gains did not. Based on Kaplan-Meier curves, ACTG1 gains predicted significantly shorter overall survival (p-value = 6.198 \u00d7 10-4). [PMID:33217970]",
            "loinc_code": "",
            "tissue": {
                "name": "uterus",
                "namespace": "UBERON",
                "id": "0000995",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000995"
            },
            "disease": {
                "disease_id": "DOID:363",
                "recommended_name": {
                    "id": "DOID:363",
                    "resource": "Disease Ontology",
                    "url": "http://disease-ontology.org/term/DOID:363",
                    "name": "uterine cancer",
                    "description": "A female reproductive organ cancer that is located_in the uterus."
                },
                "synonyms": [
                    {
                        "id": "DOID:363",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:363",
                        "name": "CA - cancer of uterus",
                        "description": ""
                    },
                    {
                        "id": "DOID:363",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:363",
                        "name": "Tumour of uterus",
                        "description": ""
                    },
                    {
                        "id": "DOID:363",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:363",
                        "name": "malignant neoplasm of uterus",
                        "description": ""
                    },
                    {
                        "id": "DOID:363",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:363",
                        "name": "malignant uterine tumor",
                        "description": ""
                    },
                    {
                        "id": "DOID:363",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:363",
                        "name": "neoplasm of uterus",
                        "description": ""
                    },
                    {
                        "id": "DOID:363",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:363",
                        "name": "uterine tumor",
                        "description": ""
                    },
                    {
                        "id": "DOID:363",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:363",
                        "name": "uterus neoplasm",
                        "description": ""
                    }
                ]
            },
            "evidence": [
                {
                    "id": "GLY_000625",
                    "database": "GlyGen",
                    "url": "https://data.glygen.org/GLY_000625"
                },
                {
                    "id": "33217970",
                    "database": "PubMed",
                    "url": "https://glygen.org/publication/PubMed/33217970"
                }
            ]
        }
    ],
    "publication": [
        {
            "title": "Genomic Amplification and Functional Dependency of the Gamma Actin Gene ACTG1 in Uterine Cancer.",
            "journal": "International journal of molecular sciences",
            "authors": "Richter C, Mayhew D, Rennhack JP, So J, Stover EH, Hwang JH, Szczesna-Cordary D",
            "date": "2020",
            "reference": [
                {
                    "type": "PubMed",
                    "id": "33217970",
                    "url": "https://glygen.org/publication/PubMed/33217970"
                }
            ],
            "evidence": [
                {
                    "id": "GLY_000625",
                    "database": "GlyGen",
                    "url": "https://data.glygen.org/GLY_000625"
                }
            ]
        }
    ],
    "evidence": [
        {
            "id": "GLY_000625",
            "database": "GlyGen",
            "url": "https://data.glygen.org/GLY_000625"
        },
        {
            "id": "33217970",
            "database": "PubMed",
            "url": "https://glygen.org/publication/PubMed/33217970"
        }
    ],
    "biomarker_id": "A0333",
    "aclist": [
        "P63261-1"
    ],
    "crossref": [],
    "section_stats": [
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}