{ "uniprot_canonical_ac": "O75578-1", "uniprot_ac": "O75578", "uniprot_id": "ITA10_HUMAN", "mass": { "chemical_mass": 127602.0, "monoisotopic_mass": 127602.0 }, "refseq": { "ac": "NP_001289969", "name": "integrin alpha-10 isoform 2", "summary": "Integrins are integral transmembrane glycoproteins composed of noncovalently linked alpha and beta chains. They participate in cell adhesion as well as cell-surface mediated signalling. This gene encodes an integrin alpha chain and is expressed at high levels in chondrocytes, where it is transcriptionally regulated by AP-2epsilon and Ets-1. The protein encoded by this gene binds to collagen. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289969" }, "gene_names": [ { "name": "ITGA10", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75578", "id": "O75578" }, { "name": "ITGA10", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289969", "id": "NP_001289969" }, { "name": "PRO827", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289969", "id": "NP_001289969" }, { "name": "PRO827", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75578", "id": "O75578" } ], "protein_names": [ { "name": "Integrin alpha-10", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75578" }, { "name": "integrin alpha-10 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289969", "id": "NP_001289969" }, { "name": "integrin alpha-10", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289969", "id": "NP_001289969" } ], "function": [ { "annotation": "Analyses of the functional regulatory domains of the integrin alpha 10 promoter suggest that AP-2epsilon and Ets-1 are involved in the transcriptional regulation of this gene in chondrocytes.", "evidence": [ { "database": "RefSeq", "id": "NP_001289969", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289969" }, { "database": "PubMed", "id": "16684505", "url": "https://glygen.org/publication/PubMed/16684505" } ] }, { "annotation": "Integrin alpha-10/beta-1 is a receptor for collagen.", "evidence": [ { "database": "UniProtKB", "id": "O75578", "url": "https://www.uniprot.org/uniprot/O75578#function" } ] }, { "annotation": "Integrins are integral transmembrane glycoproteins composed of noncovalently linked alpha and beta chains. They participate in cell adhesion as well as cell-surface mediated signalling. This gene encodes an integrin alpha chain and is expressed at high levels in chondrocytes, where it is transcriptionally regulated by AP-2epsilon and Ets-1. The protein encoded by this gene binds to collagen. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_001289969", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289969" } ] }, { "annotation": "Mouse and human articular chondrocytes express extracellular splice variants of the alpha10 subunit", "evidence": [ { "database": "RefSeq", "id": "NP_001289969", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289969" }, { "database": "PubMed", "id": "11731273", "url": "https://glygen.org/publication/PubMed/11731273" } ] }, { "annotation": "Systematic screening identifies a 2-gene signature as a high-potential prognostic marker of undifferentiated pleomorphic sarcoma/myxofibrosarcoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001289969", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289969" }, { "database": "PubMed", "id": "31742892", "url": "https://glygen.org/publication/PubMed/31742892" } ] }, { "annotation": "ZIP10 drives osteosarcoma proliferation and chemoresistance through ITGA10-mediated activation of the PI3K/AKT pathway. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001289969", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289969" }, { "database": "PubMed", "id": "34706747", "url": "https://glygen.org/publication/PubMed/34706747" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1553745678", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1553745678" }, { "id": "rs1553745678", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1553745678" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 841, "end_pos": 841, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SLS->NLS); n-glyco-sequon-loss (NTS->NTN).", "chr_id": "1", "chr_pos": "145897564", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S841", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1553744763", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1553744763" }, { "id": "rs1553744763", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1553744763" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1013, "end_pos": 1013, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->NAI).", "chr_id": "1", "chr_pos": "145895707", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1013", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754743836", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754743836" }, { "id": "rs754743836", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs754743836" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1019, "end_pos": 1019, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->NPT).", "chr_id": "1", "chr_pos": "145895689", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1019", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1016387227", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1016387227" }, { "id": "rs1016387227", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1016387227" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1020, "end_pos": 1020, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->NLA).", "chr_id": "1", "chr_pos": "145895687", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1020", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1553744552", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1553744552" }, { "id": "rs1553744552", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1553744552" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1039, "end_pos": 1039, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->IGS).", "chr_id": "1", "chr_pos": "145895392", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1039", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs587646047", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587646047" }, { "id": "rs587646047", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs587646047" }, { "id": "rs587646047", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587646047" }, { "id": "rs587646047", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs587646047#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1041, "end_pos": 1041, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->NGR).", "chr_id": "1", "chr_pos": "145895385", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000399", "site_lbl": "S1041", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75578", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75578" } ], "glycoeffect": [], "start_pos": 1163, "end_pos": 1163, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "145892813", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E1163", "disease": [ { 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has 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"id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75578", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75578" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75578", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75578" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O75578", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75578" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O75578", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75578" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O75578", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75578" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75578", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75578" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O75578", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75578" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O75578", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75578" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O75578", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75578" } ], "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": 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"https://www.uniprot.org/uniprot/O75578-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": 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"length": 1167, "header": "sp|O75578-1|ITA10_HUMAN Isoform 1 of Integrin alpha-10 OS=Homo sapiens OX=9606 GN=ITGA10 PE=2 SV=2 CANONICAL=O75578-1" }, "locus": { "chromosome": "1", "start_pos": 145910014, "end_pos": 145892801, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000369304.8", "url": "https://www.ensembl.org/id/ENST00000369304.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000358310.3", "url": "https://www.ensembl.org/id/ENSP00000358310.3" } ] } }, { "isoform_ac": "O75578-2", "url": "", "sequence": { "sequence": "MELPFVTHLFLPLVFLTGLCSPFNLDEHHPRLFPGPPEAEFGYSVLQHVGGGQRWMLVGAPWDGPSGDRRGDVYRCPVGGAHNAPCAKGHLGDYQLGNSSHPAVNMHLGMSLLETDGDGGFMVS", "length": 124, "header": "sp|O75578-2|ITA10_HUMAN Isoform 2 of Integrin alpha-10 OS=Homo sapiens OX=9606 GN=ITGA10 PE=2 SV=2 CANONICAL=O75578-1" }, "locus": {} }, { "isoform_ac": "O75578-3", "url": "", "sequence": { "sequence": "MELPFVTHLFLPLVFLTGCPTYMDVVIVLDGSNSIYPWSEVQTFLRRLVGKLFIDPEQIQVGLVQYGESPVHEWSLGDFRTKEEVVRAAKNLSRREGRETKTAQAIMVACTEGFSQSHGGRPEAARLLVVVTDGESHDGEELPAALKACEAGRVTRYGIAVLGHYLRRQRDPSSFLREIRTIASDPDERFFFNVTDEAALTDIVDALGDRIFGLEGSHAENESSFGLEMSQIGFSTHRLKDGILFGMVGAYDWGGSVLWLEGGHRLFPPRMALEDEFPPALQNHAAYLGYSVSSMLLRGGRRLFLSGAPRFRHRGKVIAFQLKKDGAVRVAQSLQGEQIGSYFGSELCPLDTDRDGTTDVLLVAAPMFLGPQNKETGRVYVYLVGQQSLLTLQGTLQPEPPQDARFGFAMGALPDLNQDGFADVAVGAPLEDGHQGALYLYHGTQSGVRPHPAQRIAAASMPHALSYFGRSVDGRLDLDGDDLVDVAVGAQGAAILLSSRPIVHLTPSLEVTPQAISVVQRDCRRRGQEAVCLTAALCFQVTSRTPGRWDHQFYMRFTASLDEWTAGARAAFDGSGQRLSPRRLRLSVGNVTCEQLHFHVLDTSDYLRPVALTVTFALDNTTKPGPVLNEGSPTSIQKLVPFSKDCGPDNECVTDLVLQVNMDIRGSRKAPFVVRGGRRKVLVSTTLENRKENAYNTSLSLIFSRNLHLASLTPQRESPIKVECAAPSAHARLCSVGHPVFQTGAKVTFLLEFEFSCSSLLSQVFVKLTASSDSLERNGTLQDNTAQTSAYIQYEPHLLFSSESTLHRYEVHPYGTLPVGPGPEFKTTLRVQNLGCYVVSGLIISALLPAVAHGGNYFLSLSQVITNNASCIVQNLTEPPGPPVHPEELQHTNRLNGSNTQCQVVRCHLGQLAKGTEVSVGLLRLVHNEFFRRAKFKSLTVVSTFELGTEEGSVLQLTEASRWSESLLEVVQTRPILISLWILIGSVLGGLLLLALLVFCLWKLGFFAHKKIPEEEKREEKLEQ", "length": 1024, "header": "sp|O75578-3|ITA10_HUMAN Isoform 3 of Integrin alpha-10 OS=Homo sapiens OX=9606 GN=ITGA10 PE=2 SV=2 CANONICAL=O75578-1" }, "locus": { "chromosome": "1", "start_pos": 145910014, "end_pos": 145892801, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000539363.2", "url": "https://www.ensembl.org/id/ENST00000539363.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000439894.1", "url": "https://www.ensembl.org/id/ENSP00000439894.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1011, "start_aa": "Asn", "end_pos": 1011, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1011", "evidence": [ { "id": "O75578", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75578#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1018, "start_aa": "Asn", "end_pos": 1018, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1018", "evidence": [ { "id": "O75578", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75578#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1039, "start_aa": "Asn", "end_pos": 1039, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1039", "evidence": [ { "id": "O75578", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75578#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 234, "start_aa": "Asn", "end_pos": 234, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn234", "evidence": [ { "id": "O75578", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75578#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 336, "start_aa": "Asn", "end_pos": 336, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn336", "evidence": [ { "id": "O75578", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75578#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 364, "start_aa": "Asn", "end_pos": 364, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn364", "evidence": [ { "id": "O75578", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75578#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 733, "start_aa": "Asn", "end_pos": 733, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn733", "evidence": [ { "id": "O75578", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75578#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 763, "start_aa": "Asn", "end_pos": 763, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn763", "evidence": [ { "id": "O75578", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75578#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 839, "start_aa": "Asn", "end_pos": 839, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn839", "evidence": [ { "id": "O75578", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75578#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 921, "start_aa": "Asn", "end_pos": 921, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn921", "evidence": [ { "id": "O75578", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75578#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 98, "start_aa": "Asn", "end_pos": 98, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn98", "evidence": [ { "id": "O75578", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75578#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 828, "end_pos": 828, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75578", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75578" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Thr828" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "The integrin alpha9beta1 mediates adhesion to activated endothelial cells and transendothelial neutrophil migration through interaction with vascular cell adhesion molecule-1.", "journal": "The Journal of cell biology", "date": "1999", "authors": "Taooka Y, Chen J, Yednock T, Sheppard D", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "10209034", "url": "https://glygen.org/publication/PubMed/10209034" } ] }, { "title": "Alpha 2 beta 1 integrin mediates dermal fibroblast attachment to type VII collagen via a 158-amino-acid segment of the NC1 domain.", "journal": "Experimental cell research", "date": "1999", "authors": "Chen M, O'Toole EA, Li YY, Woodley DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "10366422", "url": "https://glygen.org/publication/PubMed/10366422" } ] }, { "title": "The leukocyte integrin alpha D beta 2 binds VCAM-1: evidence for a binding interface between I domain and VCAM-1.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1999", "authors": "Van der Vieren M, Crowe DT, Hoekstra D, Vazeux R, Hoffman PA, Grayson MH, Bochner BS, Gallatin WM, Staunton DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "10438935", "url": "https://glygen.org/publication/PubMed/10438935" } ] }, { "title": "Characteristics of fibrinogen binding to the domain of CD11c, an alpha subunit of p150,95.", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Nham SU", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "10543983", "url": "https://glygen.org/publication/PubMed/10543983" } ] }, { "title": "The integrin alpha(9)beta(1) binds to a novel recognition sequence (SVVYGLR) in the thrombin-cleaved amino-terminal fragment of osteopontin.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Yokosaki Y, Matsuura N, Sasaki T, Murakami I, Schneider H, Higashiyama S, Saitoh Y, Yamakido M, Taooka Y, Sheppard D", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "10593924", "url": "https://glygen.org/publication/PubMed/10593924" } ] }, { "title": "Signaling through platelet integrin alpha IIb beta 3: inside-out, outside-in, and sideways.", "journal": "Thrombosis and haemostasis", "date": "1999", "authors": "Shattil SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "10605720", "url": "https://glygen.org/publication/PubMed/10605720" } ] }, { "title": "Activation of integrin alpha(V)beta(3) regulates cell adhesion and migration to bone sialoprotein.", "journal": "Experimental cell research", "date": "2000", "authors": "Byzova TV, Kim W, Midura RJ, Plow EF", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": 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Cell Genet.", "date": "1999", "authors": "Lehnert K, Ni J, Leung E, Gough S, Morris CM, Liu D, Wang SX, Langley R, Krissansen GW", "evidence": [ { "database": "UniProtKB", "id": "O75578", "url": "https://www.uniprot.org/uniprot/O75578" } ], "reference": [ { "type": "PubMed", "id": "10702680", "url": "https://glygen.org/publication/PubMed/10702680" } ] }, { "title": "Distinct recognition of collagen subtypes by alpha(1)beta(1) and alpha(2)beta(1) integrins. Alpha(1)beta(1) mediates cell adhesion to type XIII collagen.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Nykvist P, Tu H, Ivaska J, Kapyla J, Pihlajaniemi T, Heino J", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "10713152", "url": "https://glygen.org/publication/PubMed/10713152" } ] }, { "title": "Cell contact-dependent activation of alpha3beta1 integrin modulates endothelial cell responses to thrombospondin-1.", "journal": "Molecular biology of the cell", "date": "2000", "authors": "Chandrasekaran L, He CZ, Al-Barazi H, Krutzsch HC, Iruela-Arispe ML, Roberts DD", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "10982388", "url": "https://glygen.org/publication/PubMed/10982388" } ] }, { "title": "Interaction of endostatin with integrins implicated in angiogenesis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Rehn M, Veikkola T, Kukk-Valdre E, Nakamura H, Ilmonen M, Lombardo C, Pihlajaniemi T, Alitalo K, Vuori K", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "11158588", "url": "https://glygen.org/publication/PubMed/11158588" } ] }, { "title": "alpha11beta1 integrin is a receptor for interstitial collagens involved in cell migration and collagen reorganization on mesenchymal nonmuscle cells.", "journal": "Developmental biology", "date": "2001", "authors": "Tiger CF, Fougerousse F, Grundstrom G, Velling T, Gullberg D", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "11518510", "url": "https://glygen.org/publication/PubMed/11518510" } ] }, { "title": "Selective binding of collagen subtypes by integrin alpha 1I, alpha 2I, and alpha 10I domains.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Tulla M, Pentikainen OT, Viitasalo T, Kapyla J, Impola U, Nykvist P, Nissinen L, Johnson MS, Heino J", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "11572855", "url": "https://glygen.org/publication/PubMed/11572855" } ] }, { "title": "Distinct glycoprotein Ib/V/IX and integrin alpha IIbbeta 3-dependent calcium signals cooperatively regulate platelet adhesion under flow.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Nesbitt WS, Kulkarni S, Giuliano S, Goncalves I, Dopheide SM, Yap CL, Harper IS, Salem HH, Jackson SP", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "11713259", "url": "https://glygen.org/publication/PubMed/11713259" } ] }, { "title": "Characterization of the mouse integrin subunit alpha10 gene and comparison with its human homologue. Genomic structure, chromosomal localization and identification of splice variants.", "journal": "Matrix biology : journal of the International Society for Matrix Biology", "date": "2001", "authors": "Bengtsson T, Camper L, Schneller M, Lundgren-Akerlund E", "evidence": [ { "database": "RefSeq", "id": "NP_001289969", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289969" } ], "reference": [ { "type": "PubMed", "id": "11731273", "url": "https://glygen.org/publication/PubMed/11731273" } ] }, { "title": "Association of Fyn and Lyn with the proline-rich domain of glycoprotein VI regulates intracellular signaling.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Suzuki-Inoue K, Tulasne D, Shen Y, Bori-Sanz T, Inoue O, Jung SM, Moroi M, Andrews RK, Berndt MC, Watson SP", "evidence": [ { "database": "Reactome", "id": "R-HSA-75892", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75892" } ], "reference": [ { "type": "PubMed", "id": "11943772", "url": "https://glygen.org/publication/PubMed/11943772" } ] }, { "title": "Interactions of thrombospondins with alpha4beta1 integrin and CD47 differentially modulate T cell behavior.", "journal": "The Journal of cell biology", "date": "2002", "authors": "Li Z, Calzada MJ, Sipes JM, Cashel JA, Krutzsch HC, Annis DS, Mosher DF, Roberts DD", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "11980922", "url": "https://glygen.org/publication/PubMed/11980922" } ] }, { "title": "alpha 11beta 1 integrin recognizes the GFOGER sequence in interstitial collagens.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Zhang WM, Kapyla J, Puranen JS, Knight CG, Tiger CF, Pentikainen OT, Johnson MS, Farndale RW, Heino J, Gullberg D", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "12496264", "url": "https://glygen.org/publication/PubMed/12496264" } ] }, { "title": "Bidirectional integrin alphaIIbbeta3 signalling regulating platelet adhesion under flow: contribution of protein kinase C.", "journal": "The Biochemical journal", "date": "2003", "authors": "Giuliano S, Nesbitt WS, Rooney M, Jackson SP", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "12585966", "url": "https://glygen.org/publication/PubMed/12585966" } ] }, { "title": "Human tumstatin and human endostatin exhibit distinct antiangiogenic activities mediated by alpha v beta 3 and alpha 5 beta 1 integrins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2003", "authors": "Sudhakar A, Sugimoto H, Yang C, Lively J, Zeisberg M, Kalluri R", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "12682293", "url": "https://glygen.org/publication/PubMed/12682293" } ] }, { "title": "Cell adhesion to fibrillin-1 molecules and microfibrils is mediated by alpha 5 beta 1 and alpha v beta 3 integrins.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Bax DV, Bernard SE, Lomas A, Morgan A, Humphries J, Shuttleworth CA, Humphries MJ, Kielty CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "12807887", "url": "https://glygen.org/publication/PubMed/12807887" } ] }, { "title": "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.", "journal": "Genome Res.", "date": "2003", "authors": "Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A", "evidence": [ { "database": "UniProtKB", "id": "O75578", "url": "https://www.uniprot.org/uniprot/O75578" } ], "reference": [ { "type": "PubMed", "id": "12975309", "url": "https://glygen.org/publication/PubMed/12975309" } ] }, { "title": "Endorepellin causes endothelial cell disassembly of actin cytoskeleton and focal adhesions through alpha2beta1 integrin.", "journal": "The Journal of cell biology", "date": "2004", "authors": "Bix G, Fu J, Gonzalez EM, Macro L, Barker A, Campbell S, Zutter MM, Santoro SA, Kim JK, Hook M, Reed CC, Iozzo RV", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "15240572", "url": "https://glygen.org/publication/PubMed/15240572" } ] }, { "title": "Functional assessment of alphaEbeta7/E-cadherin interactions in the steady state postnatal thymus.", "journal": "Clinical & developmental immunology", "date": "2004", "authors": "Prockop SE, Petrie HT", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "15330449", "url": "https://glygen.org/publication/PubMed/15330449" } ] }, { "title": "Galectin-3 is induced in rheumatoid arthritis synovial fibroblasts after adhesion to cartilage oligomeric matrix protein.", "journal": "Annals of the rheumatic diseases", "date": "2005", "authors": "Neidhart M, Zaucke F, von Knoch R, Jungel A, Michel BA, Gay RE, Gay S", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "15345499", "url": "https://glygen.org/publication/PubMed/15345499" } ] }, { "title": "The fibril-associated collagen IX provides a novel mechanism for cell adhesion to cartilaginous matrix.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Kapyla J, Jaalinoja J, Tulla M, Ylostalo J, Nissinen L, Viitasalo T, Vehvilainen P, Marjomaki V, Nykvist P, Saamanen AM, Farndale RW, Birk DE, Ala-Kokko L, Heino J", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "15383545", "url": "https://glygen.org/publication/PubMed/15383545" } ] }, { "title": "Loss of alpha10beta1 integrin expression leads to moderate dysfunction of growth plate chondrocytes.", "journal": "Journal of cell science", "date": "2005", "authors": "Bengtsson T, Aszodi A, Nicolae C, Hunziker EB, Lundgren-Akerlund E, Fassler R", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "15713743", "url": "https://glygen.org/publication/PubMed/15713743" } ] }, { "title": "VLA-4-fibronectin interaction is required for the terminal differentiation of human bone marrow cells capable of spontaneous and high rate immunoglobulin secretion.", "journal": "The Journal of experimental medicine", "date": "1992", "authors": "Roldan E, Garcia-Pardo A, Brieva JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "1588291", "url": "https://glygen.org/publication/PubMed/1588291" } ] }, { "title": "Canstatin acts on endothelial and tumor cells via mitochondrial damage initiated through interaction with alphavbeta3 and alphavbeta5 integrins.", "journal": "Cancer research", "date": "2005", "authors": "Magnon C, Galaup A, Mullan B, Rouffiac V, Bouquet C, Bidart JM, Griscelli F, Opolon P, Perricaudet M", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "15899827", "url": "https://glygen.org/publication/PubMed/15899827" } ] }, { "title": "Critical role of the fifth domain of E-cadherin for heterophilic adhesion with alpha E beta 7, but not for homophilic adhesion.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2005", "authors": "Shiraishi K, Tsuzaka K, Yoshimoto K, Kumazawa C, Nozaki K, Abe T, Tsubota K, Takeuchi T", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "16002701", "url": "https://glygen.org/publication/PubMed/16002701" } ] }, { "title": "Cartilage oligomeric matrix protein/thrombospondin 5 supports chondrocyte attachment through interaction with integrins.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Chen FH, Thomas AO, Hecht JT, Goldring MB, Lawler J", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "16051604", "url": "https://glygen.org/publication/PubMed/16051604" } ] }, { "title": "GPVI and integrin alphaIIb beta3 signaling in platelets.", "journal": "Journal of thrombosis and haemostasis : JTH", "date": "2005", "authors": "Watson SP, Auger JM, McCarty OJ, Pearce AC", "evidence": [ { "database": "Reactome", "id": "R-HSA-75892", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75892" } ], "reference": [ { "type": "PubMed", "id": "16102042", "url": "https://glygen.org/publication/PubMed/16102042" } ] }, { "title": "Human alpha1 type IV collagen NC1 domain exhibits distinct antiangiogenic activity mediated by alpha1beta1 integrin.", "journal": "The Journal of clinical investigation", "date": "2005", "authors": "Sudhakar A, Nyberg P, Keshamouni VG, Mannam AP, Li J, Sugimoto H, Cosgrove D, Kalluri R", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "16151532", "url": "https://glygen.org/publication/PubMed/16151532" } ] }, { "title": "Integrin alphaDbeta2, an adhesion receptor up-regulated on macrophage foam cells, exhibits multiligand-binding properties.", "journal": "Blood", "date": "2006", "authors": "Yakubenko VP, Yadav SP, Ugarova TP", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "16239428", "url": "https://glygen.org/publication/PubMed/16239428" } ] }, { "title": "Regulation of integrin alpha10 expression in chondrocytes by the transcription factors AP-2epsilon and Ets-1.", "journal": "Biochemical and biophysical research communications", "date": "2006", "authors": "Wenke AK, Rothhammer T, Moser M, Bosserhoff AK", "evidence": [ { "database": "RefSeq", "id": "NP_001289969", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289969" } ], "reference": [ { "type": "PubMed", "id": "16684505", "url": "https://glygen.org/publication/PubMed/16684505" } ] }, { "title": "Integrin alpha3beta1, a novel receptor for alpha3(IV) noncollagenous domain and a trans-dominant Inhibitor for integrin alphavbeta3.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Borza CM, Pozzi A, Borza DB, Pedchenko V, Hellmark T, Hudson BG, Zent R", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "16731529", "url": "https://glygen.org/publication/PubMed/16731529" } ] }, { "title": "Collagen XVI harbors an integrin alpha1 beta1 recognition site in its C-terminal domains.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Eble JA, Kassner A, Niland S, Morgelin M, Grifka J, Grassel S", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "16754661", "url": "https://glygen.org/publication/PubMed/16754661" } ] }, { "title": "The synergy site of fibronectin is required for strong interaction with the platelet integrin alphaIIbbeta3.", "journal": "Annals of biomedical engineering", "date": "2006", "authors": "Chada D, Mather T, Nollert MU", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "16933105", "url": "https://glygen.org/publication/PubMed/16933105" } ] }, { "title": "Critical residues of alphaX I-domain recognizing fibrinogen central domain.", "journal": "Biochemical and biophysical research communications", "date": "2007", "authors": "Lee JH, Choi J, Nham SU", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "17339034", "url": "https://glygen.org/publication/PubMed/17339034" } ] }, { "title": "Involvement of alpha(v)beta3 integrins in osteoclast function.", "journal": "Journal of bone and mineral metabolism", "date": "2007", "authors": "Nakamura I, Duong LT, Rodan SB, Rodan GA", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "17968485", "url": "https://glygen.org/publication/PubMed/17968485" } ] }, { "title": "von Willebrand factor binding to platelet GpIb initiates signals for platelet activation.", "journal": "The Journal of clinical investigation", "date": "1991", "authors": "Kroll MH, Harris TS, Moake JL, Handin RI, Schafer AI", "evidence": [ { "database": "Reactome", "id": "R-HSA-75892", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75892" } ], "reference": [ { "type": "PubMed", "id": "1939645", "url": "https://glygen.org/publication/PubMed/1939645" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "O75578-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75578-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Molecular interplay between endostatin, integrins, and heparan sulfate.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Faye C, Moreau C, Chautard E, Jetne R, Fukai N, Ruggiero F, Humphries MJ, Olsen BR, Ricard-Blum S", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "19502598", "url": "https://glygen.org/publication/PubMed/19502598" } ] }, { "title": "Cartilage oligomeric matrix protein promotes cell attachment via two independent mechanisms involving CD47 and alphaVbeta3 integrin.", "journal": "Molecular and cellular biochemistry", "date": "2010", "authors": "Rock MJ, Holden P, Horton WA, Cohn DH", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "20033473", "url": "https://glygen.org/publication/PubMed/20033473" } ] }, { "title": "Thrombospondin-induced adhesion of human platelets.", "journal": "The Journal of clinical investigation", "date": "1991", "authors": "Tuszynski GP, Kowalska MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "2010551", "url": "https://glygen.org/publication/PubMed/2010551" } ] }, { "title": "Lumican inhibits cell migration through alpha2beta1 integrin.", "journal": "Experimental cell research", "date": "2010", "authors": "Zeltz C, Brezillon S, Kapyla J, Eble JA, Bobichon H, Terryn C, Perreau C, Franz CM, Heino J, Maquart FX, Wegrowski Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "20705068", "url": "https://glygen.org/publication/PubMed/20705068" } ] }, { "title": "Tetrastatin, the NC1 domain of the alpha4(IV) collagen chain: a novel potent anti-tumor matrikine.", "journal": "PloS one", "date": "2012", "authors": "Brassart-Pasco S, Senechal K, Thevenard J, Ramont L, Devy J, Di Stefano L, Dupont-Deshorgue A, Brezillon S, Feru J, Jazeron JF, Diebold MD, Ricard-Blum S, Maquart FX, Monboisse JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "22539938", "url": "https://glygen.org/publication/PubMed/22539938" } ] }, { "title": "Target-derived matricryptins organize cerebellar synapse formation through alpha3beta1 integrins.", "journal": "Cell reports", "date": "2012", "authors": "Su J, Stenbjorn RS, Gorse K, Su K, Hauser KF, Ricard-Blum S, Pihlajaniemi T, Fox MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "22884367", "url": "https://glygen.org/publication/PubMed/22884367" } ] }, { "title": "Endorepellin laminin-like globular 1/2 domains bind Ig3-5 of vascular endothelial growth factor (VEGF) receptor 2 and block pro-angiogenic signaling by VEGFA in endothelial cells.", "journal": "The FEBS journal", "date": "2013", "authors": "Willis CD, Poluzzi C, Mongiat M, Iozzo RV", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "23374253", "url": "https://glygen.org/publication/PubMed/23374253" } ] }, { "title": "Systematic screening identifies a 2-gene signature as a high-potential prognostic marker of undifferentiated pleomorphic sarcoma/myxofibrosarcoma.", "journal": "Journal of cellular and molecular medicine", "date": "2020", "authors": "Hu Q, Zhou S, Hu X, Zhang H, Huang S, Wang Y", "evidence": [ { "database": "RefSeq", "id": "NP_001289969", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289969" } ], "reference": [ { "type": "PubMed", "id": "31742892", "url": "https://glygen.org/publication/PubMed/31742892" } ] }, { "title": "ZIP10 drives osteosarcoma proliferation and chemoresistance through ITGA10-mediated activation of the PI3K/AKT pathway.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2021", "authors": "Li H, Shen X, Ma M, Liu W, Yang W, Wang P, Cai Z, Mi R, Lu Y, Zhuang J, Jiang Y, Song Y, Wu Y, Shen H", "evidence": [ { "database": "RefSeq", "id": "NP_001289969", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289969" } ], "reference": [ { "type": "PubMed", "id": "34706747", "url": "https://glygen.org/publication/PubMed/34706747" } ] }, { "title": "Factor VIII/von Willebrand factor in subendothelium mediates platelet adhesion.", "journal": "Blood", "date": "1985", "authors": "Turitto VT, Weiss HJ, Zimmerman TS, Sussman II", "evidence": [ { "database": "Reactome", "id": "R-HSA-75892", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75892" } ], "reference": [ { "type": "PubMed", "id": "3872140", "url": "https://glygen.org/publication/PubMed/3872140" } ] }, { "title": "Solid-phase von Willebrand factor contains a conformationally active RGD motif that mediates endothelial cell adhesion through the alpha v beta 3 receptor.", "journal": "Blood", "date": "1993", "authors": "Denis C, Williams JA, Lu X, Meyer D, Baruch D", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "7505120", "url": "https://glygen.org/publication/PubMed/7505120" } ] }, { "title": "Integrin alpha v beta 8. Interaction with vitronectin and functional divergence of the beta 8 cytoplasmic domain.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Nishimura SL, Sheppard D, Pytela R", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "7525578", "url": "https://glygen.org/publication/PubMed/7525578" } ] }, { "title": "The integrin receptor alpha 8 beta 1 mediates interactions of embryonic chick motor and sensory neurons with tenascin-C.", "journal": "Neuron", "date": "1995", "authors": "Varnum-Finney B, Venstrom K, Muller U, Kypta R, Backus C, Chiquet M, Reichardt LF", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "7541634", "url": "https://glygen.org/publication/PubMed/7541634" } ] }, { "title": "CD31/PECAM-1 is a ligand for alpha v beta 3 integrin involved in adhesion of leukocytes to endothelium.", "journal": "The Journal of cell biology", "date": "1995", "authors": "Piali L, Hammel P, Uherek C, Bachmann F, Gisler RH, Dunon D, Imhof BA", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "7542249", "url": "https://glygen.org/publication/PubMed/7542249" } ] }, { "title": "The human integrin alpha 8 beta 1 functions as a receptor for tenascin, fibronectin, and vitronectin.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Schnapp LM, Hatch N, Ramos DM, Klimanskaya IV, Sheppard D, Pytela R", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "7559467", "url": "https://glygen.org/publication/PubMed/7559467" } ] }, { "title": "The alpha v beta 5 integrin receptor regulates receptor-mediated endocytosis of vitronectin.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Panetti TS, McKeown-Longo PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "7685013", "url": "https://glygen.org/publication/PubMed/7685013" } ] }, { "title": "Platelet adhesion to collagen types I through VIII under conditions of stasis and flow is mediated by GPIa/IIa (alpha 2 beta 1-integrin).", "journal": "Blood", "date": "1994", "authors": "Saelman EU, Nieuwenhuis HK, Hese KM, de Groot PG, Heijnen HF, Sage EH, Williams S, McKeown L, Gralnick HR, Sixma JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "8118028", "url": "https://glygen.org/publication/PubMed/8118028" } ] }, { "title": "Interaction of type IV collagen with the isolated integrins alpha 1 beta 1 and alpha 2 beta 1.", "journal": "European journal of biochemistry", "date": "1993", "authors": "Kern A, Eble J, Golbik R, Kuhn K", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "8344274", "url": "https://glygen.org/publication/PubMed/8344274" } ] }, { "title": "Receptor-ligand interaction between CD44 and osteopontin (Eta-1).", "journal": "Science (New York, N.Y.)", "date": "1996", "authors": "Weber GF, Ashkar S, Glimcher MJ, Cantor H", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "8560266", "url": "https://glygen.org/publication/PubMed/8560266" } ] }, { "title": "Partial purification and characterization of a protease from human plasma cleaving von Willebrand factor to fragments produced by in vivo proteolysis.", "journal": "Blood", "date": "1996", "authors": "Furlan M, Robles R, Lammle B", "evidence": [ { "database": "Reactome", "id": "R-HSA-75892", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75892" } ], "reference": [ { "type": "PubMed", "id": "8639781", "url": "https://glygen.org/publication/PubMed/8639781" } ] }, { "title": "Differential effects of the integrins alpha9beta1, alphavbeta3, and alphavbeta6 on cell proliferative responses to tenascin. 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