{ "uniprot_canonical_ac": "A2RU67-1", "ptm_annotation": [], "sequence": { "header": "sp|A2RU67-1|F234B_HUMAN Isoform 1 of Protein FAM234B OS=Homo sapiens OX=9606 GN=FAM234B PE=1 SV=1 CANONICAL=A2RU67-1", "length": 622, "sequence": "MATVLSRALKLPGKKSPDLGEYDPLTQADSDESEDDLVLNLQKNGGVKNGKSPLGEAPEPDSDAEVAEAAKPHLSEVTTEGYPSEPLGGLEQKAASSLVSYVRTSVFLLTLGISMILVLLCAFLIPCPPRDLHSTWSRHLGSQGGGDLSPLELADVNGDGLRDVLLSFVMSRNGSAVGVSRPAANLVCLSGMNGSTLWSSLLPEEARDITCLELMPGSLAETICLVTGTHKMLSAFNATSGKAIWTLNPNYLSNGTLAAPVVVLPDLDEDGVRDLVVLAIGELQPDLCFLLVSGRTGNPVGRPVKYNIVGVGNLIGPQVYITTNGAVYILFGFGNIQAVALRDIFVQAQNRDSSPPSLQIEEPEWEKRRSINLSELIDVYSDGVELLQMVKAPDSNCSNLLITTRQSLVLLRGQNLTPYWALRLQGLRSQPTPGYFTDDQTLDFLLQIQDGVGMKKMMVVDGDSGSIVWSYRAPCHMKETPATSAVTSDQKSVFLFWAEGLSAASPNSDIILGTEPPSLHHLYLLHPAFPSILLDLANTTGTVTASEVGINDLWKDAFYVTRTTGPSSEGHPAALVVSKLSLRWALMEGQMAQLQESTPKIGRGELRRFLSRIKFVEAPYEI" }, "uniprot_id": "Q69YM1_HUMAN", "glycation": [], "keywords": [ "glycoprotein", "reported.glygen_ds" ], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU67", "id": "A2RU67", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "reaction_enzymes": [], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "type": "PubMed", "id": "18669648" } ], "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "evidence": [ { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RU67", "id": "A2RU67", "database": "iPTMnet" } ], "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "date": "2008" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19413330", "type": "PubMed", "id": "19413330" } ], "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "evidence": [ { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RU67", "id": "A2RU67", "database": "iPTMnet" } ], "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20068231", "type": "PubMed", "id": "20068231" } ], "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "evidence": [ { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RU67", "id": "A2RU67", "database": "iPTMnet" } ], "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23090970", "type": "PubMed", "id": "23090970" } ], "title": "Quantification of the N-glycosylated secretome by super-SILAC during breast cancer progression and in human blood samples.", "journal": "Molecular & cellular proteomics : MCP", "evidence": [ { "url": "https://data.glygen.org/GLYDS000143", "id": "GLYDS000143", "database": "GlyGen" } ], "authors": "Boersema PJ, Geiger T, Wisniewski JR, Mann M", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24190977", "type": "PubMed", "id": "24190977" } ], "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "evidence": [ { "url": "https://data.glygen.org/GLYDS000143", "id": "GLYDS000143", "database": "GlyGen" } ], "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "date": "2014" } ], "uniprot_ac": "A2RU67", "gene_names": [ { "url": "https://www.uniprot.org/uniprot/A2RU67", "type": "synonym", "resource": "UniProtKB", "name": "DKFZp762C0813" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2RU67", "type": "synonym", "resource": "RefSeq", "name": "FAM234B" }, { "url": "https://www.uniprot.org/uniprot/A2RU67", "type": "recommended", "resource": "UniProtKB", "name": "FAM234B" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2RU67", "type": "synonym", "resource": "RefSeq", "name": "KIAA1467" }, { "url": "https://www.uniprot.org/uniprot/A2RU67", "type": "synonym", "resource": "UniProtKB", "name": "KIAA1467" } ], "reactions": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2RU67#A2RU67-1", "isoform_ac": "A2RU67-1", "locus": { "end_pos": 13044404, "strand": "-", "start_pos": 13080627, "chromosome": "12", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000416494", "id": "ENST00000416494", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000394063", "id": "ENSP00000394063", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2RU67-1|F234B_HUMAN Isoform 1 of Protein FAM234B OS=Homo sapiens OX=9606 GN=FAM234B PE=1 SV=1 CANONICAL=A2RU67-1", "length": 622, "sequence": "MATVLSRALKLPGKKSPDLGEYDPLTQADSDESEDDLVLNLQKNGGVKNGKSPLGEAPEPDSDAEVAEAAKPHLSEVTTEGYPSEPLGGLEQKAASSLVSYVRTSVFLLTLGISMILVLLCAFLIPCPPRDLHSTWSRHLGSQGGGDLSPLELADVNGDGLRDVLLSFVMSRNGSAVGVSRPAANLVCLSGMNGSTLWSSLLPEEARDITCLELMPGSLAETICLVTGTHKMLSAFNATSGKAIWTLNPNYLSNGTLAAPVVVLPDLDEDGVRDLVVLAIGELQPDLCFLLVSGRTGNPVGRPVKYNIVGVGNLIGPQVYITTNGAVYILFGFGNIQAVALRDIFVQAQNRDSSPPSLQIEEPEWEKRRSINLSELIDVYSDGVELLQMVKAPDSNCSNLLITTRQSLVLLRGQNLTPYWALRLQGLRSQPTPGYFTDDQTLDFLLQIQDGVGMKKMMVVDGDSGSIVWSYRAPCHMKETPATSAVTSDQKSVFLFWAEGLSAASPNSDIILGTEPPSLHHLYLLHPAFPSILLDLANTTGTVTASEVGINDLWKDAFYVTRTTGPSSEGHPAALVVSKLSLRWALMEGQMAQLQESTPKIGRGELRRFLSRIKFVEAPYEI" } }, { "url": "https://www.uniprot.org/uniprot/A2RU67#Q69YM1-1", "isoform_ac": "Q69YM1-1", "locus": { "end_pos": 13061715, "strand": "-", "start_pos": 13141482, "chromosome": "12", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000537625", "id": "ENST00000537625", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000437974", "id": "ENSP00000437974", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|Q69YM1-1|F234B_HUMAN Computationally mapped isoform of Protein FAM234B OS=Homo sapiens OX=9606 GN=FAM234B PE=1 SV=1 CANONICAL=A2RU67-1", "length": 324, "sequence": "LVTGTHKMLSAFNATSGKAIWTLNPNYLSNGTLAAPVVVLPDLDEDGVRDLVVLAIGELQPDLCFLLVSGRTGNPVGRPVKYNIVGVGNLIGPQVYITTNGAVYILFGFGNIQAVALRDIFVQAQNRDSSPPSLQIEEPEWEKRRSINLSELIDVYSDGVELLQMVKAPDSNCSNLLITTRQSLVLLRGQNLTPYWALRLQGLRSQPTPGYFTDDQTLDFLLQIQDGVGMKKMMVVDGDSGSIVWSYRAPCHMKETPATSAVTSDQKSVFLFWAEGLSAASPNSDIILGTEPPSLHHLYLLHPAFPSILLDLANTTGTVTASEG" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:57613", "resource": "KEGG Pathway", "id": "hsa:57613", "name": "" } ], "reaction_participants": [], "function": [], "orthologs": [ { "uniprot_canonical_ac": "D3ZWJ9-1", "protein_name": "Protein FAM234B", "sequence": { "length": 624, "sequence": "MATVLSRALKLPGKKSPDLGEYDPLTQADSDESEDDLVLNLQQKNGGVKNGKSALGDPPEPDSDADVAGASKPHLSEVTPEGFPSEPLGGLEQKATSSLVSYVRTSVFLLTLVISMVLVLLCAFLIPCPPRDLHSTWSRRLGSQGGGDLSPLELADVNRDGLRDVLLTFVTTRNGTEGGGGSQPTADLVCLSGMNGSTLWSSPLPEEAQDVTCLDLIPGSVAKTICLVTGTRKMLSAFNATSGKILWTLNPNYLSNGTLAAPVVVLPDLDEDGVRDLVVLAIGELQPDLCFLLVSGRTGSPVGRPVKYNIVGVGNLIGPQVYITASGAVYILFGFGNIQAVALRDIFVQAQNRDSSPPSLQIEEPEWEKHRSVNLSELIDVYSDGVELLQLVKAPDSNSSSLLITTRQGLVLLRGQDLTPHWKLNLQGLRSQPTPGYFTDDQTLDFLLQTQDGVGMKKMTVVDGSSGSIVWSYRVPCHVKETPTTSAITSDQKSVFLFWAEALTAASLSSDDSSGAEPSGLYHLYLLHPAFPSVLLDLSNTTGIVTAAEVGVNDIWKDAFYVTRTTGMSPEGHTTSLVVSKLSLRWGLMEGQMVQLKETTPKIGRGELRRFLSRIKFVDSPYQM" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/12572", "id": "12572", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Fam234b", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q8BYI8-1", "protein_name": "Protein FAM234B", "sequence": { "length": 624, "sequence": "MATVLSRALKLPGKKSPDLGEYDPLTQADSDESEDDLVLNLQQKNGGVKNGKSALGDLPEPDSDADVAGAAKPHLSEVTPEGFPSEPLGGLEQKATSPLVSYVRTSVFLLTLVISMVLVLLCAFLIPCPPRDLHSAWSRRLGSQGGGDLSPLELADVNRDGLRDVLLTFVTTRNGTEGGVGSQPTADLVCLSGMNGSTLWSSPLPEEAQDVTCLDLIPGSVAKTICLVTGTRKMLSAFNATSGKVLWTLNPNHLSNGTLAAPVVVLPDLDEDGVRDLVVLAIGELQPDLCFLLVSGRTGSPVGRPVKYNIVGVGNLIGPQVYITASGAVYILFGFGNIQAVALRDIFVQAQNRDSSPPSLQIEEPEWEKHRSVNLSELIDVYSDGVELLQLVKAPDSNSSSLLITTRQGLVLLRGQDLTPHWKLNLQGLRSQPTPGYFTDDQTLDFLLQTQDGDGMKKMTVVDGGSGSIVWSYSIPCHMKETPTTSAITSDQKSVFLFWAEALTAASLSSDDSSGAEPPGLYHLYLLHPAFPSILLDLSNTTGIVTASEVGINDIWKDAFYVTRTTGMSPEGHPTSLVVSKLSLRWALMEGQMVQLKETTPKIGRGELRRFLSRIKFVDSPYQI" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/12572", "id": "12572", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Fam234b", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "sequence_org": "K", "start_pos": 10, "alt_nt": "T", "chr_id": "12", "subjects_positive": "1", "chr_pos": "13197366", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RU67", "id": "A2RU67", "database": "BioMuta" } ], "glycoeffect": [ "o-glyco-site-loss" ], "frequency": "2.0", "sequence_mut": "M", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 10, "minor_allelic_frequency": "", "ref_nt": "A" }, { "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KKS->NKS).", "sequence_org": "K", "start_pos": 14, "alt_nt": "T", "chr_id": "12", "subjects_positive": "1", "chr_pos": "13208489", "disease": [ { "disease_id": "DOID:363", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "CA - cancer of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterus neoplasm", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "neoplasm of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "Tumour of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of uterus", "id": "DOID:363" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "A female reproductive organ cancer that is located_in the uterus.", "name": "uterine cancer", "id": "DOID:363" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RU67", "id": "A2RU67", "database": "BioMuta" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1036773613", "id": "rs1036773613", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs1036773613#frequency_tab", "id": "rs1036773613", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs1036773613", "id": "rs1036773613", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "frequency": "0.2", "sequence_mut": "N", "subjects_tested": "558", "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "end_pos": 14, "minor_allelic_frequency": "", "ref_nt": "G" }, { "sequence_org": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->DAT).", "alt_nt": "null", "chr_id": "12", "ref_nt": "G", "chr_pos": "13061751A>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1345771488", "id": "rs1345771488", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs1345771488#frequency_tab", "id": "rs1345771488", "database": "TOPMed" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_mut": "D", "start_pos": 237, "keywords": [ "ebi", "germline" ], "end_pos": 237, "minor_allelic_frequency": "" }, { "sequence_org": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->SAT).", "alt_nt": "null", "chr_id": "12", "ref_nt": "G", "chr_pos": "13061752A>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146404494", "id": "rs146404494", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146404494", "id": "rs146404494", "database": "ExAC" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs146404494#frequency_tab", "id": "rs146404494", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs146404494", "id": "rs146404494", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_mut": "S", "start_pos": 237, "keywords": [ "ebi", "germline" ], "end_pos": 237, "minor_allelic_frequency": "" }, { "sequence_org": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->NAM).", "alt_nt": "null", "chr_id": "12", "ref_nt": "T", "chr_pos": "13061758C>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748225496", "id": "rs748225496", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748225496", "id": "rs748225496", "database": "ExAC" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs748225496", "id": "rs748225496", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_mut": "M", "start_pos": 239, "keywords": [ "ebi", "germline" ], "end_pos": 239, "minor_allelic_frequency": "" }, { "sequence_org": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DES->NES).", "alt_nt": "null", "chr_id": "12", "ref_nt": "A", "chr_pos": "13055604G>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1198656079", "id": "rs1198656079", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs1198656079#frequency_tab", "id": "rs1198656079", "database": "TOPMed" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_mut": "N", "start_pos": 31, "keywords": [ "ebi", "germline" ], "end_pos": 31, "minor_allelic_frequency": "" }, { "sequence_org": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DSS->NSS).", "alt_nt": "null", "chr_id": "12", "ref_nt": "A", "chr_pos": "13067208G>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1183282012", "id": "rs1183282012", "database": "dbSNP" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs1183282012", "id": "rs1183282012", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_mut": "N", "start_pos": 352, "keywords": [ "ebi", "germline" ], "end_pos": 352, "minor_allelic_frequency": "" }, { "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NCS->NCI).", "sequence_org": "S", "start_pos": 398, "alt_nt": "T", "chr_id": "12", "subjects_positive": "1", "chr_pos": "13221288", "disease": [ { "disease_id": "DOID:11934", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "description": "", "name": "tumor of head and neck", "id": "DOID:11934" }, { "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "description": "", "name": "head/neck neoplasm", "id": "DOID:11934" }, { "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "description": "", "name": "head and neck tumours", "id": "DOID:11934" }, { "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "description": "", "name": "head and neck neoplasm", "id": "DOID:11934" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "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.", "name": "head and neck cancer", "id": "DOID:11934" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RU67", "id": "A2RU67", "database": "BioMuta" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "frequency": "0.1", "sequence_mut": "I", "subjects_tested": "980", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 398, "minor_allelic_frequency": "", "ref_nt": "G" }, { "sequence_org": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->NCN).", "alt_nt": "null", "chr_id": "12", "ref_nt": "A", "chr_pos": "13068354G>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs965907314", "id": "rs965907314", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs965907314#frequency_tab", "id": "rs965907314", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs965907314", "id": "rs965907314", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_mut": "N", "start_pos": 398, "keywords": [ "ebi", "germline" ], "end_pos": 398, "minor_allelic_frequency": "" }, { "sequence_org": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->NCR).", "alt_nt": "null", "chr_id": "12", "ref_nt": "C", "chr_pos": "13068353A>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773744772", "id": "rs773744772", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773744772", "id": "rs773744772", "database": "ExAC" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs773744772", "id": "rs773744772", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_mut": "R", "start_pos": 398, "keywords": [ "ebi", "germline" ], "end_pos": 398, "minor_allelic_frequency": "" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.0%). In dbSNP: rs1310944696.", "sequence_org": "S", "start_pos": 611, "alt_nt": "G", "chr_id": "12", "subjects_positive": "1", "chr_pos": "13232912", "disease": [ { "disease_id": "DOID:11054", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "", "name": "bladder cancer", "id": "DOID:11054" }, { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "", "name": "tumor of the bladder", "id": "DOID:11054" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "A primary or metastatic malignant neoplasm involving the bladder.", "name": "urinary bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder malignant neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor, urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant urinary bladder tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of the urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant urinary bladder neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm, bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder malignant tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant bladder tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm, urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant bladder neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "tumor of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "cancer of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://www.omim.org/entry/109800", "resource": "MIM", "description": "Bladder cancer", "name": "Bladder cancer", "id": "MIM:109800" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "name": "urinary bladder cancer", "id": "DOID:11054" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RU67", "id": "A2RU67", "database": "BioMuta" } ], "glycoeffect": [ "o-glyco-site-loss" ], "frequency": "1.0", "sequence_mut": "C", "subjects_tested": "103", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 611, "minor_allelic_frequency": "", "ref_nt": "C" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "sequence_org": "E", "start_pos": 621, "alt_nt": "C", "chr_id": "12", "subjects_positive": "1", "chr_pos": "13232942", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RU67", "id": "A2RU67", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "A", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 621, "minor_allelic_frequency": "", "ref_nt": "A" } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065904.1", "ac": "NP_065904.1", "name": "protein FAM234B", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU67", "id": "A2RU67", "database": "UniProtKB" } ], "name": "cytoskeleton", "id": "GO:0005856" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016021", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU67", "id": "A2RU67", "database": "UniProtKB" } ], "name": "integral component of membrane", "id": "GO:0016021" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150051", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU67", "id": "A2RU67", "database": "UniProtKB" } ], "name": "postsynaptic Golgi apparatus", "id": "GO:0150051" } ], "total": 3, "name": "Cellular Component" } ] }, "site_annotation": [ { "end_pos": 175, "annotation": "n_glycosylation_sequon", "start_pos": 173 }, { "end_pos": 195, "annotation": "n_glycosylation_sequon", "start_pos": 193 }, { "end_pos": 239, "annotation": "n_glycosylation_sequon", "start_pos": 237 }, { "end_pos": 256, "annotation": "n_glycosylation_sequon", "start_pos": 254 }, { "end_pos": 374, "annotation": "n_glycosylation_sequon", "start_pos": 372 }, { "end_pos": 398, "annotation": "n_glycosylation_sequon", "start_pos": 396 }, { "end_pos": 417, "annotation": "n_glycosylation_sequon", "start_pos": 415 }, { "end_pos": 540, "annotation": "n_glycosylation_sequon", "start_pos": 538 } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084444", "id": "ENSG00000084444", "database": "Bgee" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RU67", "id": "A2RU67", "database": "BioMuta" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM234B", "id": "FAM234B", "database": "GeneCards" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/57613", "id": "57613", "database": "GeneID" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=29288", "id": "29288", "database": "HGNC" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A2RU67*", "id": "A2RU67", "database": "IntAct" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR011047", "id": "IPR011047", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:57613", "id": "hsa:57613", "database": "KEGG Pathway" }, { "url": "http://www.omim.org/entry/617837", "id": "617837", "database": "MIM" }, { "url": "https://www.nextprot.org/entry/NX_A2RU67", "id": "NX_A2RU67", "database": "neXtProt" }, { "url": "https://omabrowser.org/oma/group/LFWASEP/", "id": "LFWASEP", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=294858at2759", "id": "294858at2759", "database": "OrthoDB" }, { "url": "https://pharos.nih.gov/targets/A2RU67", "id": "A2RU67", "database": "PHAROS" }, { "url": "http://purl.obolibrary.org/obo/PR_PR_A2RU67", "id": "PR_A2RU67", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065904", "id": "NP_065904", "database": "RefSeq" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065904.1", "id": "NP_065904.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A2RU67", "id": "A2RU67", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A2RU67-1", "id": "A2RU67-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/Q69YM1", "id": "Q69YM1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/Q69YM1-1", "id": "Q69YM1-1", "database": "UniProtKB" } ], "expression_disease": [ { "name": "Prostate cancer [DO disease name]", "trend": "Up", "disease": [ { "disease_id": "DOID:10283", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "tumor of the prostate", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "hereditary prostate cancer", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "prostatic neoplasm", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "prostate neoplasm", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of the prostate", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "prostatic cancer", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "NGP - new growth of prostate", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "prostate cancer, familial", "id": "DOID:10283" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 4", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "HPC4", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 4", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 4", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, on chromosome 7", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene.", "name": "prostate cancer, hereditary, 12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "EHBP1 familial prostate cancer", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 12; HPC12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "familial prostate cancer caused by mutation in EHBP1", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "HPC12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012244", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 5", "id": "MONDO:0012244" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012244", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 5", "id": "MONDO:0012244" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012244", "resource": "MONDO", "description": "", "name": "HPC5", "id": "MONDO:0012244" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012244", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 5", "id": "MONDO:0012244" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012093", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 3", "id": "MONDO:0012093" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012093", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 3", "id": "MONDO:0012093" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012093", "resource": "MONDO", "description": "", "name": "HPC3", "id": "MONDO:0012093" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012093", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 3", "id": "MONDO:0012093" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene.", "name": "prostate cancer, hereditary, 13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 13; HPC13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "MSMB familial prostate cancer", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "HPC13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "familial prostate cancer caused by mutation in MSMB", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "predisposing for prostate cancer", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "HPC8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "HPC6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "HPC9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma.", "name": "familial prostate carcinoma", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "hereditary prostate cancer", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "familial prostate cancer", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "prostate cancer, familial", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "hereditary prostate carcinoma", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "HPC7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "HPC7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "prostate cancer aggressiveness", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 7; HPC7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene.", "name": "prostate cancer, hereditary, 1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "HPC1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "familial prostate cancer caused by mutation in RNASEL", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "RNASEL familial prostate cancer", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 1; HPC1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "Prca1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "HPC11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "HPC11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 11; HPC11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "HPC14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "HPC14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 14; HPC14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "HPC15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "HPC15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 15; HPC15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "HPCX1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "prostate cancer susceptibility, X-linked", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 1; HPCX1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "HPCX1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "HPCX2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 2; HPCX2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "HPCX2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "HPC10", "id": "MONDO:0012620" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 10", "id": "MONDO:0012620" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 10; HPC10", "id": "MONDO:0012620" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "HPC10", "id": "MONDO:0012620" }, { "url": "https://www.omim.org/entry/611868", "resource": "MIM", "description": "Prostate cancer, hereditary, 12", "name": "Prostate cancer, hereditary, 12", "id": "MIM:611868" }, { "url": "https://www.omim.org/entry/611928", "resource": "MIM", "description": "Prostate cancer, hereditary, 13", "name": "Prostate cancer, hereditary, 13", "id": "MIM:611928" }, { "url": "https://www.omim.org/entry/176807", "resource": "MIM", "description": "Prostate cancer", "name": "Prostate cancer", "id": "MIM:176807" }, { "url": "https://www.omim.org/entry/601518", "resource": "MIM", "description": "Prostate cancer, hereditary, 1", "name": "Prostate cancer, hereditary, 1", "id": "MIM:601518" }, { "url": "https://www.omim.org/entry/611955", "resource": "MIM", "description": "Prostate cancer, hereditary, 11", "name": "Prostate cancer, hereditary, 11", "id": "MIM:611955" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "A male reproductive organ cancer that is located_in the prostate.", "name": "prostate cancer", "id": "DOID:10283" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RU67", "id": "A2RU67", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:10283", "significant": "Yes" }, { "name": "Urinary bladder cancer [DO disease name]", "trend": "Up", "disease": [ { "disease_id": "DOID:11054", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "", "name": "bladder cancer", "id": "DOID:11054" }, { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "", "name": "tumor of the bladder", "id": "DOID:11054" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "A primary or metastatic malignant neoplasm involving the bladder.", "name": "urinary bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder malignant neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor, urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant urinary bladder tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of the urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant urinary bladder neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm, bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder malignant tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant bladder tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm, urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant bladder neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "tumor of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "cancer of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://www.omim.org/entry/109800", "resource": "MIM", "description": "Bladder cancer", "name": "Bladder cancer", "id": "MIM:109800" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "name": "urinary bladder cancer", "id": "DOID:11054" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RU67", "id": "A2RU67", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:11054", "significant": "Yes" }, { "name": "Thyroid gland cancer [DO disease name]", "trend": "Down", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RU67", "id": "A2RU67", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:1781", "significant": "Yes" }, { "name": "Liver cancer [DO disease name]", "trend": "Down", "disease": [ { "disease_id": "DOID:3571", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "primary malignant neoplasm of liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "resectable malignant neoplasm of the liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of liver, primary", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "Ca liver - primary", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "neoplasm of liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "primary malignant neoplasm of Liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "Resectable malignant neoplasm of Liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of liver, not specified as primary or secondary", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "ca liver - primary", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "non-resectable primary hepatic malignant neoplasm", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "primary liver cancer", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "hepatic neoplasm", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "malignant hepato-biliary neoplasm", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "hepatic cancer", "id": "DOID:3571" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "A hepatobiliary system cancer that is located_in the liver.", "name": "liver cancer", "id": "DOID:3571" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RU67", "id": "A2RU67", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3571", "significant": "No" }, { "name": "Lung squamous cell carcinoma [DO disease name]", "trend": "Up", "disease": [ { "disease_id": "DOID:3907", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:3907", "resource": "Disease Ontology", "description": "", "name": "Epidermoid cell carcinoma of the lung", "id": "DOID:3907" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:3907", "resource": "Disease Ontology", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "name": "lung squamous cell carcinoma", "id": "DOID:3907" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RU67", "id": "A2RU67", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3907", "significant": "Yes" }, { "name": "Lung adenocarcinoma [DO disease name]", "trend": "Down", "disease": [ { "disease_id": "DOID:3910", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "description": "", "name": "nonsmall cell adenocarcinoma", "id": "DOID:3910" }, { "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "description": "", "name": "bronchogenic lung adenocarcinoma", "id": "DOID:3910" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "description": "A lung cancer that derives_from epithelial cells of glandular origin.", "name": "lung adenocarcinoma", "id": "DOID:3910" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RU67", "id": "A2RU67", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3910", "significant": "No" }, { "name": "Esophageal cancer [DO disease name]", "trend": "Down", "disease": [ { "disease_id": "DOID:5041", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "esophagus cancer", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of distal third of esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "Ca middle third oesophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of Distal Third of esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of abdominal esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of Proximal Third of esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of proximal third of esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of middle third of oesophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of upper third esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of the middle Third of the esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "Ca lower third oesophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of lower third of oesophagus", "id": "DOID:5041" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "A primary or metastatic malignant neoplasm involving the esophagus.", "name": "esophageal cancer", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of abdominal esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of proximal third of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "gastric cardia adenocarcinoma, susceptibility to", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "cancer of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of lower third of oesophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "Escc, susceptibility to", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of upper third esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of distal third of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "Aerodigestive tract cancer, susceptibility to", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of middle third of oesophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "esophageal cancer", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of proximal third of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant esophageal tumor", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "Ca lower third oesophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of the middle third of the esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant esophageal neoplasm", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant esophagus neoplasm", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant esophagus tumor", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "esophagus cancer", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of distal third of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "Ca middle third oesophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of the esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "esophageal squamous cell carcinoma, susceptibility to", "id": "MONDO:0007576" }, { "url": "https://www.omim.org/entry/133239", "resource": "MIM", "description": "Esophageal cancer", "name": "Esophageal cancer", "id": "MIM:133239" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "name": "esophageal cancer", "id": "DOID:5041" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RU67", "id": "A2RU67", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:5041", "significant": "No" } ], "glycosylation": [ { "comment": "", "site_category": "reported", "end_pos": 237, "residue": "Asn", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24190977", "id": "24190977", "database": "PubMed" }, { "url": "https://data.glygen.org/GLYDS000143", "id": "GLYDS000143", "database": "GlyGen" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23090970", "id": "23090970", "database": "PubMed" } ], "subtype": "", "relation": "attached", "start_pos": 237, "glytoucan_ac": "", "type": "N-linked" }, { "comment": "", "site_category": "reported", "end_pos": 396, "residue": "Asn", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24190977", "id": "24190977", "database": "PubMed" }, { "url": "https://data.glygen.org/GLYDS000143", "id": "GLYDS000143", "database": "GlyGen" } ], "subtype": "", "relation": "attached", "start_pos": 396, "glytoucan_ac": "", "type": "N-linked" }, { "comment": "", "site_category": "reported", "end_pos": 399, "residue": "Asn", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24190977", "id": "24190977", "database": "PubMed" }, { "url": "https://data.glygen.org/GLYDS000143", "id": "GLYDS000143", "database": "GlyGen" } ], "subtype": "", "relation": "attached", "start_pos": 399, "glytoucan_ac": "", "type": "N-linked" } ], "mutagenesis": [], "disease": [], "phosphorylation": [ { "residue": "Ser", "comment": "", "kinase_gene_name": "CDC73", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "id": "18669648", "database": "PubMed" }, { "url": "http://phospho.elm.eu.org/byAccession/A2RU67.html", "id": "A2RU67", "database": "phospho.ELM" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19690332", "id": "19690332", "database": "PubMed" } ], "start_pos": 16, "end_pos": 16, "kinase_uniprot_canonical_ac": "Q6P1J9-1" }, { "residue": "Ser", "comment": "Phosphoserine", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU67", "id": "A2RU67", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "id": "18669648", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19690332", "id": "19690332", "database": "PubMed" } ], "start_pos": 16, "end_pos": 16, "kinase_uniprot_canonical_ac": "" }, { "residue": "Tyr", "comment": "", "kinase_gene_name": "CDC73", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "id": "18669648", "database": "PubMed" }, { "url": "http://phospho.elm.eu.org/byAccession/A2RU67.html", "id": "A2RU67", "database": "phospho.ELM" } ], "start_pos": 22, "end_pos": 22, "kinase_uniprot_canonical_ac": "Q6P1J9-1" }, { "residue": "Thr", "comment": "", "kinase_gene_name": "CDC73", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "id": "18669648", "database": "PubMed" }, { "url": "http://phospho.elm.eu.org/byAccession/A2RU67.html", "id": "A2RU67", "database": "phospho.ELM" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24275569", "id": "24275569", "database": "PubMed" } ], "start_pos": 26, "end_pos": 26, "kinase_uniprot_canonical_ac": "Q6P1J9-1" }, { "residue": "Thr", "comment": "Phosphothreonine", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU67", "id": "A2RU67", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24275569", "id": "24275569", "database": "PubMed" } ], "start_pos": 26, "end_pos": 26, "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "comment": "", "kinase_gene_name": "CDC73", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "id": "18669648", "database": "PubMed" }, { "url": "http://phospho.elm.eu.org/byAccession/A2RU67.html", "id": "A2RU67", "database": "phospho.ELM" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24275569", "id": "24275569", "database": "PubMed" } ], "start_pos": 30, "end_pos": 30, "kinase_uniprot_canonical_ac": "Q6P1J9-1" }, { "residue": "Ser", "comment": "Phosphoserine", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU67", "id": "A2RU67", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "id": "18669648", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24275569", "id": "24275569", "database": "PubMed" } ], "start_pos": 30, "end_pos": 30, "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "comment": "", "kinase_gene_name": "CDC73", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "id": "18669648", "database": "PubMed" }, { "url": "http://phospho.elm.eu.org/byAccession/A2RU67.html", "id": "A2RU67", "database": "phospho.ELM" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19690332", "id": "19690332", "database": "PubMed" } ], "start_pos": 33, "end_pos": 33, "kinase_uniprot_canonical_ac": "Q6P1J9-1" }, { "residue": "Ser", "comment": "Phosphoserine", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU67", "id": "A2RU67", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "id": "18669648", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19690332", "id": "19690332", "database": "PubMed" } ], "start_pos": 33, "end_pos": 33, "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "comment": "", "kinase_gene_name": "CDC73", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "id": "18669648", "database": "PubMed" }, { "url": "http://phospho.elm.eu.org/byAccession/A2RU67.html", "id": "A2RU67", "database": "phospho.ELM" } ], "start_pos": 52, "end_pos": 52, "kinase_uniprot_canonical_ac": "Q6P1J9-1" }, { "residue": "Ser", "comment": "", "kinase_gene_name": "CDC73", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20068231", "id": "20068231", "database": "PubMed" } ], "start_pos": 597, "end_pos": 597, "kinase_uniprot_canonical_ac": "Q6P1J9-1" }, { "residue": "Thr", "comment": "", "kinase_gene_name": "CDC73", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20068231", "id": "20068231", "database": "PubMed" } ], "start_pos": 598, "end_pos": 598, "kinase_uniprot_canonical_ac": "Q6P1J9-1" }, { "residue": "Ser", "comment": "", "kinase_gene_name": "CDC73", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "id": "18669648", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19413330", "id": "19413330", "database": "PubMed" }, { "url": "http://phospho.elm.eu.org/byAccession/A2RU67.html", "id": "A2RU67", "database": "phospho.ELM" } ], "start_pos": 62, "end_pos": 62, "kinase_uniprot_canonical_ac": "Q6P1J9-1" }, { "residue": "Ser", "comment": "Phosphoserine", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU67", "id": "A2RU67", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "id": "18669648", "database": "PubMed" } ], "start_pos": 62, "end_pos": 62, "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "comment": "", "kinase_gene_name": "CDC73", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "id": "18669648", "database": "PubMed" }, { "url": "http://phospho.elm.eu.org/byAccession/A2RU67.html", "id": "A2RU67", "database": "phospho.ELM" } ], "start_pos": 75, "end_pos": 75, "kinase_uniprot_canonical_ac": "Q6P1J9-1" } ], "mass": { "monoisotopic_mass": 67039.0, "chemical_mass": 67039.0 }, "expression_tissue": [ { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000007", "uberon": "0000007", "name": "Pituitary gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084444", "id": "ENSG00000084444", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084444", "id": "ENSG00000084444", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000458", "uberon": "0000458", "name": "Endocervix" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084444", "id": "ENSG00000084444", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000473", "uberon": "0000473", "name": "Testis" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084444", "id": "ENSG00000084444", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000948", "uberon": "0000948", "name": "Heart" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084444", "id": "ENSG00000084444", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000955", "uberon": "0000955", "name": "Brain" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084444", "id": "ENSG00000084444", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000992", "uberon": "0000992", "name": "Ovary" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084444", "id": "ENSG00000084444", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000996", "uberon": "0000996", "name": "Vagina" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084444", "id": "ENSG00000084444", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001043", "uberon": "0001043", "name": "Esophagus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084444", "id": "ENSG00000084444", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001150", "uberon": "0001150", "name": "Body of pancreas" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084444", "id": "ENSG00000084444", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001155", "uberon": "0001155", "name": "Colon" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084444", "id": "ENSG00000084444", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001160", "uberon": "0001160", "name": "Fundus of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084444", "id": "ENSG00000084444", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001161", "uberon": "0001161", "name": "Body of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084444", "id": "ENSG00000084444", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001255", "uberon": "0001255", "name": "Urinary bladder" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084444", "id": "ENSG00000084444", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001987", "uberon": "0001987", "name": "Placenta" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084444", "id": "ENSG00000084444", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084444", "id": "ENSG00000084444", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002048", "uberon": "0002048", "name": "Lung" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084444", "id": "ENSG00000084444", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002107", "uberon": "0002107", "name": "Liver" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084444", "id": "ENSG00000084444", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002367", "uberon": "0002367", "name": "Prostate gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084444", "id": "ENSG00000084444", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084444", "id": "ENSG00000084444", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000084444", "id": "ENSG00000084444", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2RU67", "name": "FAM234B", "locus": { "end_pos": 13142521, "strand": "+", "start_pos": 13044284, "chromosome": "12", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000084444", "id": "ENSG00000084444", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A2RU67#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Protein FAM234B" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2RU67", "type": "synonym", "resource": "RefSeq", "name": "protein FAM234B" } ] }