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pmid:32665038
Identification of potential crucial genes and key pathways in osteosarcoma.
Junwei Liu · Siyu Wu · Xiaoyu Xie · Ziming Wang · Qianqian Lei
Hereditas · 2020 doi:10.1186/s41065-020-00142-0
Paper
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Experiment
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Data
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Analysis
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Complete file
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Seventy-four normal-primary DEGs (NPDEGs) and 764 primary-metastatic DEGs (PMDEGs) were screened. VAMP8, A2M, HLA-DRA, SPARCL1, HLA-DQA1, APOC1 and AQP1 were identified continuously upregulating during the oncogenesis and metastasis of osteosarcoma. The enriched functions and pathways of NPDEGs include procession and presentation of antigens, activation of MHC class II receptors and phagocytosis. The enriched functions and pathways of PMDEGs include mitotic nuclear division, cell adhesion molecules (CAMs) and focal adhesion. With protein-protein interaction (PPI) network analyzed by Molecular Complex Detection (MCODE) plug-in of Cytoscape software, one hub NPDEG (HLA-DRA) and 7 hub PMDEGs (CDK1, CDK20, CCNB1, MTIF2, MRPS7, VEGFA and EGF) were eventually selected, and the most significant pathways in NPDEGs module and PMDEGs module were enriched in the procession and presentation of exogenous peptide antigen via MHC class II and the nuclear division, respectively.\nCONCLUSIONS: By integrated bioinformatic analysis, numerous DEGs related to osteosarcoma were screened, and the hub DEGs identified in this study are possibly part of the potential biomarkers for osteosarcoma. However, further experimental studies are still necessary to elucidate the biological function and mechanism of these genes.", "claims": [{"id": "claim-method", "statement": "Identification of DEGs was performed using the LIMMA package of R [21]. 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GO:0002396", "hsa04940, hsa05310, hsa05330, hsa05332, hsa05150, hsa05322, hsa04672, hsa05140, hsa04612, hsa04145, hsa05320, hsa05416, hsa05323, hsa05152, hsa04640, hsa05321, hsa04514, hsa04658, hsa04659, hsa05145, hsa05166, hsa05164, hsa05169"], ["VAMP8", "Vesicle Associated Membrane Protein 8", "GO:0002478, GO:0019884, GO:0048002, GO:0019882, GO:0043312, GO:0002283, GO:0042119, GO:0002446, GO:0002697, GO:0002696, GO:0050867, GO:0002699, GO:0043304, GO:0033006, GO:0042590", "/"], ["A2M", "Alpha-2-Macroglobulin", "GO:0002697", "hsa04610"], ["SPARCL1", "SPARC Like 1", "/", "/"], ["HLA-DQA1", "Major Histocompatibility Complex, Class II, DQ Alpha 1", "GO:0002478, GO:0019884, GO:0019886, GO:0048002, GO:0002495, GO:0002504, GO:0019882, GO:0060333, GO:0002429, GO:0071346, GO:0002768, GO:0034341, GO:0050852, GO:0050851", "hsa04940, hsa05310, hsa05330, hsa05332, hsa05150, hsa05322, hsa04672, hsa05140, hsa04612, hsa04145, hsa05320, hsa05416, hsa05323, hsa05152, hsa04640, hsa05321, hsa04514, hsa04658, hsa04659, hsa05145, hsa05166, hsa05164, hsa05169"], ["APOC1", "Apolipoprotein C1", "GO:0043062, GO:0051346, GO:0060627, GO:0030100", "/"], ["AQP1", "Aquaporin 1", "GO:0015669, GO:0015701, GO:0046677, GO:0030185, GO:0006979, GO:0015670, GO:0048545, GO:0042476, GO:0042542, GO:0097237", "hsa04964"]], "row_count": 8, "column_count": 4, "numeric_cells": 15, "header_rows": 1, "locator": "section[11]/table-wrap[1]#Tab2"}}, {"id": "asset:table:pmid:32665038:3", "role": "table", "format": "jats-table", "media_type": "application/vnd.jats.table+json", "uri": null, "sha256": "sha256:81c1ac4a9f24e22855d4647d75662d7f8b887069a04e7c8d030b21b340e5d65a", "bytes": 3548, "access": "open", "state": "verified", "reader": "read_table", "reader_status": "available", "identifier": "section[13]/table-wrap[1]#Tab3", "version": null, "note": "Hub genes with high degree of connectivity in each module", "structure": {"pmcid": "PMC7362476", "section_index": 13, "section_title": "PPI (protein-protein interaction) network and module analysis", "row_count": 9, "column_count": 8}, "table": {"label": "Table 3", "caption": "Hub genes with high degree of connectivity in each module", "rows": [["Category", "MCODE module", "Gene symbol", "Degree", "Type", "Full name", "Go BP ID", "KEGG pathways"], ["NPDEG", "Module 1", "HLA-DRA", "7", "Up", "Major histocompatibility complex, class II, DR alpha", "GO:0002478, GO:0019884, GO:0019886, GO:0048002, GO:0002495, GO:0002504, GO:0019882, GO:0060333, GO:0002429, GO:0071346, GO:0002768, GO:0034341, GO:0050852, GO:0002503, GO:0050851, GO:0002399, GO:0002501, GO:0002396,", "hsa04940, hsa05310, hsa05330, hsa05332, hsa05150, hsa05322, hsa04672, hsa05140, hsa04612, hsa04145, hsa05320, hsa05416, hsa05323, hsa05152, hsa04640, hsa05321, hsa04514, hsa04658, hsa04659, hsa05145, hsa05166, hsa05164, hsa05169"], ["PMDEG", "Module 1", "CDK1", "74", "Up", "Cyclin dependent kinase 1", "GO:0010038, GO:1901988, GO:0045930, GO:1901991, GO:0010948, GO:0007093, GO:0007568, GO:0046677, GO:0031145, GO:0000075, GO:0042692, GO:0009123, GO:0009141, GO:0071103, GO:0045927,", "hsa04110"], ["PMDEG", "Module 1", "CDK20", "62", "Up", "Cyclin dependent kinase 20", "/", "/"], ["PMDEG", "Module 1", "CCNB1", "61", "Up", "Cyclin B1", "GO:0140014, GO:0000819, GO:0000070, GO:0010038, GO:0000280, GO:0007059, GO:0048285, GO:0045839, GO:0098813, GO:0007088, GO:0051784, GO:0051783, GO:0001701, GO:0010965, GO:2000816, GO:0051983, GO:1905819, GO:0051306, GO:0030071, GO:0033048, GO:1905818, GO:0007094, GO:0031577, GO:0071173, GO:0071174, GO:0033044, GO:1902099, GO:0071241, GO:0033046, GO:0007091, GO:0051985, GO:1901988, GO:0045841, GO:0051304, GO:0044784, GO:0071248, GO:1902100, GO:0033047, GO:0033045, GO:0045930, GO:0070482, GO:1901991, GO:0010948, GO:0007093, GO:0036293, GO:0001666, GO:0031145, GO:0051656, GO:0000075, GO:0071453, GO:0042692, GO:0009123, GO:0009141, GO:0048565, GO:0010639, GO:0071103, GO:0045927", "hsa04110"], ["PMDEG", "Module 2", "MTIF2", "25", "Up", "Mitochondrial translational initiation factor 2", "GO:0032543, GO:0140053", "/"], ["PMDEG", "Module 2", "MRPS7", "25", "Down", "Mitochondrial ribosomal protein S7", "GO:0032543, GO:0140053, GO:0070125, GO:0006414, GO:0022613, GO:0070126", "/"], ["PMDEG", "Module 3", "VEGFA", "38", "Down", "Vascular endothelial growth factor A", "GO:0043129, GO:0052547, GO:0048875, GO:0052548, GO:0050900, GO:0010466, GO:0010951, GO:0032103, GO:0010810, GO:0045785, GO:0048732, GO:0001701, GO:0010811, GO:0060249, GO:0033044, GO:0031589, GO:0045807, GO:0097529, GO:0045861, GO:0030595, GO:0070482, GO:0048871, GO:0051346, GO:0036293, GO:0001666, GO:0002576, GO:0001894, GO:0002685, GO:0002688, GO:0060627, GO:0071453, GO:0001954, GO:0042692, GO:0001952, GO:0050920, GO:0030100, GO:0060326, GO:0050678, GO:0002687, GO:0061138, GO:0016049, GO:0045927", "hsa05323, hsa04510, hsa04933"], ["PMDEG", "Module 3", "EGF", "34", "Up", "Epidermal growth factor", "GO:0140014, GO:0043129, GO:0052547, GO:0043062, GO:0030198, GO:0000280, GO:0048875, GO:0052548, GO:0048285, GO:0007088, GO:0050900, GO:0010466, GO:0010951, GO:0032103, GO:0010810, GO:0045785, GO:0048732, GO:0051783, GO:0001701, GO:0010811, GO:0060249, GO:0033044, GO:0031589, GO:0045807, GO:0097529, GO:0045861, GO:0030595, GO:0070482, GO:0048871, GO:0051346, GO:0036293, GO:0001666, GO:0002576, GO:0001894, GO:0002685, GO:0002688, GO:0045862, GO:0060627, GO:0071453, GO:0001954, GO:0042692, GO:0007219, GO:0001952, GO:0050920, GO:0030100, GO:0060326, GO:0050678, GO:0051098, GO:0002687, GO:0061138, GO:0016049, GO:0045927", "hsa04668, hsa05323, hsa04510, hsa04933"]], "row_count": 9, "column_count": 8, "numeric_cells": 32, "header_rows": 1, "locator": "section[13]/table-wrap[1]#Tab3"}}], "gaps": []}, "analysis": {"state": "complete", "methods": [{"id": "method-1", "family": "differential_expression", "specific": "limma_voom", "label": "Differential expression analysis", "dsl_operations": ["normalise_counts", "differential_expression_fit", 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The adjusted P-values (adj P-value) were adopted to avoid the occurrence of false-positive results. Using the Benjamini-Hochberg method [22] via the multtest package in R, the FDR (that is, adjusted p-value) < 0.05 and |log2fold-change (FC)| > 1 were used as the cut-off criteria, as previously reported [7–11]. The three gene expression profiles above were downloaded from the Gene Expression Omnibus (GEO) database (https://www.ncbi.nlm.nih.gov/geo/) [18] for identification of DEGs."}}, {"id": "method-2", "family": "network_analysis", "specific": "ppi_network", "label": "Network / pathway analysis", "dsl_operations": ["build_graph", "centrality_scores", "pathway_enrich"], "missing_operations": [], "expressible": true, "parameters": {}, "data_shapes": ["edge_list"], "evidence": {"score": 0.7, "band": "medium", "quote": "protein-protein interaction"}}, {"id": "method-3", "family": "network_analysis", "specific": "pathway_enrichment", "label": "Network / pathway analysis", "dsl_operations": ["pathway_enrich"], "missing_operations": [], "expressible": true, "parameters": {}, "data_shapes": ["edge_list"], "evidence": {"score": 0.8, "band": "high", "quote": "GO enrichment"}}], "targets": [], "gaps": []}, "capability": {"state": "complete", "requirements": [{"capability_id": "capability:computational_analysis", "label": "Computational analysis platform", "assay_families": ["meta_analysis", "machine_learning", "survival_analysis", "statistical_regression", "pca", "molecular_docking", "network_analysis", "differential_expression", "gwas"], "availability_state": "owned", "tier_unlocked": "R1", "candidate": "Automated Assays Laravel application and simulated adapters"}], "gaps": []}, "readiness": {"state": "blocked", "tier": "R4", "blocking_axis": "data", "blocked_on": "data:accession_absent", "axes": {"method": {"tier": "R1", "expressible": true, "required_operations": ["normalise_counts", "differential_expression_fit", "fdr_bh"], "missing_operations": [], "basis": "The paper names the method it used and the corpus's method extractor maps it onto the DSL catalogue: limma_voom."}, "capability": {"tier": "R1", "capability_id": "capability:computational_analysis", "availability_state": "owned", "basis": "The computational analysis is owned. The physical bench the paper used is not, so a physical validation cannot be run here."}, "data": {"tier": "R4", "reachable": false, "accessions": [], "resolved_accessions": [], "statements": ["The datasets generated and analyzed during the current study are available in the GEO repository (https://www.ncbi.nlm.nih.gov/geo/)."], "basis": "The paper names no accession to its source data, so the data has to come from the authors."}}, "can_run": {"dsl_operations": ["normalise_counts", "differential_expression_fit", "fdr_bh"], "assets": ["source:pmid:32665038", "asset:table:pmid:32665038:1", "asset:table:pmid:32665038:2", "asset:table:pmid:32665038:3"], "steps": ["run_analysis"]}, "must_build": {"dsl_operations": [], "converters": [], "readers": [], "capabilities": [], "data_gaps": ["data:geo:None"]}, "gaps": ["data:accession_absent"]}, "review": {"state": "partial", "machine_critique": {"kind": "extraction_review", "reader": {"model": "MiniMax-M3.1-Flash", "provider": "minimax", "provider_family": "minimax", "read_at": "2026-10-31T19:06:11Z", "independence": "single_reader"}, "evidence_check": {"method": "reordered", "availability": "verbatim"}, "calls": 3, "usage": {"prompt_tokens": 29949, "completion_tokens": 2476, "cached_tokens": 9992}}, "human_critique": null, "stages": [{"id": "extraction", "state": "complete", "reader": "MiniMax-M3.1-Flash", "provider": "minimax"}], "gaps": ["review.independent_reader", "review.machine_critique", "review.human_critique"]}, "execution": {"state": "absent", "status": "not_run", "mode": null, "runs": [], "gaps": ["execution.not_run"]}, "provenance": {"entities": [{"id": "pmid:32665038", "type": "paper", "label": "pmid:32665038"}, {"id": "source:pmid:32665038", "type": "manuscript", "label": "PMID 32665038 full text"}, {"id": "data:geo:None", "type": "dataset", "label": "GEO None"}], "activities": [{"id": "activity-reading-sci-2026-11-01", "type": "classification", "used": [{"id": "pmid:32665038", "type": "paper", "label": "pmid:32665038"}, {"id": "source:pmid:32665038", "type": "manuscript", "label": "PMID 32665038 full text"}, {"id": "data:geo:None", "type": "dataset", "label": "GEO None"}], "agent": "agent:corpus-assay-engine"}, {"id": "activity-read-32665038", "type": "extraction", "used": ["source:pmid:32665038"], "agent": "agent:minimax-reader"}, {"id": "activity-resolve-None", "type": "accession_resolution", "used": ["data:geo:None"], "agent": "agent:corpus-assay-engine"}], "agents": [{"id": "agent:corpus-assay-engine", "type": "software", "label": "Corpus assay engine"}, {"id": "agent:minimax-reader", "type": "software", "label": "MiniMax literature reader"}], "source_run_id": "reading-sci-2026-11-01", "dsl_catalogue_fingerprint": "343fb30756ba6ec3", "capability_table_fingerprint": "2cb3e42f047d2ecf", "snapshot_id": "ba34b49490d9bfaf"}, "lineage": {"parent_id": "pmid:32665038", "parent_hash": "sha256:6913d6b9a1ca2dedeb68c1b54ee2aa550179debe85de217c396eacf49af54da5", "fork_of": null, "generation": 7}, "gaps": ["execution.not_run", "review.human_critique", "review.independent_reader", "review.machine_critique", "step:obtain_source_data blocked on data:accession_absent"], "assays": [{"role": "analysis", "definition_id": "differential_expression", "definition_version": "f2132e96ae6c7a4e", "definition_digest": null, "required_operations": ["normalise_counts", "differential_expression_fit", "fdr_bh"], "support_state": "supported", "source_hashes": {"dsl_catalogue": "f2132e96ae6c7a4e"}, "confidence": 1.0, "evidence": ["Identification of DEGs was performed using the LIMMA package of R [21]. The adjusted P-values (adj P-value) were adopted to avoid the occurrence of false-positive results. Using the Benjamini-Hochberg method [22] via the multtest package in R, the FDR (that is, adjusted p-value) < 0.05 and |log2fold-change (FC)| > 1 were used as the cut-off criteria, as previously reported [7–11]. The three gene expression profiles above were downloaded from the Gene Expression Omnibus (GEO) database (https://www.ncbi.nlm.nih.gov/geo/) [18] for identification of DEGs."], "order_basis": "analysis_only", "id": "assay:1"}]}