{ "uniprot_canonical_ac": "Q9H269-1", "uniprot_ac": "Q9H269", "uniprot_id": "VPS16_HUMAN", "mass": { "chemical_mass": 94694.0, "monoisotopic_mass": 94694.0 }, "refseq": { "ac": "NP_072097", "name": "vacuolar protein sorting-associated protein 16 homolog isoform 1", "summary": "Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps16 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_072097" }, "gene_names": [ { "name": "VPS16", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9H269", "id": "Q9H269" }, { "name": "DYT30; hVPS16", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_072097", "id": "NP_072097" }, { "name": "VPS16", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_072097", "id": "NP_072097" } ], "protein_names": [ { "name": "Vacuolar protein sorting-associated protein 16 homolog", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9H269" }, { "name": "hVPS16", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9H269" }, { "name": "vacuolar protein sorting protein 16; vacuolar protein sorting-associated protein 16 homolog; vacuolar protein sorting 16 homolog; VPS16, CORVET/HOPS core subunit", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_072097", "id": "NP_072097" }, { "name": "vacuolar protein sorting-associated protein 16 homolog isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_072097", "id": "NP_072097" } ], "function": [ { "annotation": "A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia.", "evidence": [ { "database": "RefSeq", "id": "NP_072097", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_072097" }, { "database": "PubMed", "id": "33998058", "url": "https://glygen.org/publication/PubMed/33998058" } ] }, { "annotation": "Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease.", "evidence": [ { "database": "RefSeq", "id": "NP_072097", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_072097" }, { "database": "PubMed", "id": "33938619", "url": "https://glygen.org/publication/PubMed/33938619" } ] }, { "annotation": "Bioinformatics Analysis of the Prognostic Significance of VPS16 in Hepatocellular Carcinoma and Its Role in Drug Screening. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_072097", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_072097" }, { "database": "PubMed", "id": "37124933", "url": "https://glygen.org/publication/PubMed/37124933" } ] }, { "annotation": "Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings.", "evidence": [ { "database": "RefSeq", "id": "NP_072097", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_072097" }, { "database": "PubMed", "id": "34013567", "url": "https://glygen.org/publication/PubMed/34013567" } ] }, { "annotation": "Overexpression of VPS16 correlates with tumor progression and chemoresistance in colorectal cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_072097", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_072097" }, { "database": "PubMed", "id": "35367832", "url": "https://glygen.org/publication/PubMed/35367832" } ] }, { "annotation": "Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act as a core component of the putative HOPS and CORVET endosomal tethering complexes which are proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late endosomal membrane and to regulate late endocytic, phagocytic and autophagic traffic towards lysosomes. The CORVET complex is proposed to function as a Rab5 effector to mediate early endosome fusion probably in specific endosome subpopulations (PubMed:11382755, PubMed:23351085, PubMed:24554770, PubMed:25266290, PubMed:25783203). Required for recruitment of VPS33A to the HOPS complex (PubMed:23901104). Required for fusion of endosomes and autophagosomes with lysosomes; the function is dependent on its association with VPS33A but not VPS33B (PubMed:25783203). The function in autophagosome-lysosome fusion implicates STX17 but not UVRAG (PubMed:24554770).", "evidence": [ { "database": "UniProtKB", "id": "Q9H269", "url": "https://www.uniprot.org/uniprot/Q9H269#function" }, { "database": "PubMed", "id": "23351085", "url": "https://glygen.org/publication/PubMed/23351085" }, { "database": "PubMed", "id": "25783203", "url": "https://glygen.org/publication/PubMed/25783203" }, { "database": "PubMed", "id": "25266290", "url": "https://glygen.org/publication/PubMed/25266290" }, { "database": "PubMed", "id": "23901104", "url": "https://glygen.org/publication/PubMed/23901104" }, { "database": "PubMed", "id": "24554770", "url": "https://glygen.org/publication/PubMed/24554770" }, { "database": "PubMed", "id": "11382755", "url": "https://glygen.org/publication/PubMed/11382755" } ] }, { "annotation": "Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps16 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_072097", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_072097" } ] } ], "disease": [ { "disease_id": "MONDO:0025691", "recommended_name": { "id": "MONDO:0025691", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0025691", "name": "dystonia 30", "description": "" }, "synonyms": [ { "id": "MONDO:0025691", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0025691", "name": "DYT30", "description": "" }, { "id": "MIM:619291", "resource": "MIM", "url": "https://www.omim.org/entry/619291", "name": "Dystonia 30", "description": "Dystonia 30" } ], "evidence": [ { "id": "619291", "database": "MIM", "url": "https://www.omim.org/entry/619291" } ] } ], "snv": [ { "evidence": [ { "id": "rs150232766", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150232766" }, { "id": "rs150232766", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150232766" }, { "id": "rs150232766", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs150232766#frequency_tab" }, { "id": "rs150232766", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs150232766" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 160, "end_pos": 160, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVG->NVS).", "chr_id": "20", "chr_pos": "2860557", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G160", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770104209", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770104209" }, { "id": "rs770104209", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770104209" }, { "id": "rs770104209", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770104209" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 260, "end_pos": 260, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NCN->NCS).", "chr_id": "20", "chr_pos": "2861250", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N260", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200043001", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200043001" }, { "id": "rs200043001", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200043001" }, { "id": "rs200043001", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200043001#frequency_tab" }, { "id": "rs200043001", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200043001" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 545, "end_pos": 545, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->L).", "chr_id": "20", "chr_pos": "2864201", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "S545", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 669, "end_pos": 669, "sequence_org": "A", "sequence_mut": "D", "comment": "Disrupts interaction with VPS33A, no effect on interaction with VPS18 and impairs endosome-lysosome fusion; when associated with E-725.", "evidence": [ { "database": "UniProtKB", "id": "Q9H269", "url": "https://www.uniprot.org/uniprot/Q9H269" }, { "database": "PubMed", "id": "25783203", "url": "https://glygen.org/publication/PubMed/25783203" }, { "database": "PubMed", "id": "23901104", "url": "https://glygen.org/publication/PubMed/23901104" } ] }, { "start_pos": 725, "end_pos": 725, "sequence_org": "R", "sequence_mut": "E", "comment": "Disrupts interaction with VPS33A, no effect on interaction with VPS18 and impairs endosome-lysosome fusion; when associated with D-669.", "evidence": [ { "database": "UniProtKB", "id": "Q9H269", "url": "https://www.uniprot.org/uniprot/Q9H269" }, { "database": "PubMed", "id": "25783203", "url": "https://glygen.org/publication/PubMed/25783203" }, { "database": "PubMed", "id": "23901104", "url": "https://glygen.org/publication/PubMed/23901104" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "83.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000215305", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215305" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "80.02", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000215305", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215305" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "82.13", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000215305", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215305" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "69.19", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000215305", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215305" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "91.78", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000215305", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215305" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "88.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000215305", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215305" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "71.51", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000215305", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215305" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "86.75", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000215305", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215305" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "93.66", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000215305", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215305" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "70.51", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000215305", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215305" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "83.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000215305", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215305" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "93.92", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000215305", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215305" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "92.44", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000215305", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215305" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q9H269", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9H269" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "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 developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "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": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q9H269", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9H269" } ], "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", 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"description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "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": "up", "name": "Urinary bladder 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9H269" } ], "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": 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"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 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"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": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "Q9H269", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9H269" } ], "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 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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": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q9H269", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9H269" } ], "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": "Q9H269", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9H269" } ], "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": "Q9H269", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9H269" } ], "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": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H269", "url": "https://www.uniprot.org/uniprot/Q9H269" } ], "common_name": "Human" } ], "gene": [ { "name": "VPS16", "url": "https://www.uniprot.org/uniprot/Q9H269", "locus": { "chromosome": "20", "start_pos": 2866732, "end_pos": 2840703, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000215305", "url": "https://www.ensembl.org/id/ENSG00000215305" } ] } } ], "crossref": [ { "id": "ENSG00000215305", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000215305", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "VPS16", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=VPS16", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "64601", "url": "https://www.ncbi.nlm.nih.gov/gene/64601", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "14584", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=14584", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "Q9H269", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q9H269*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR006925", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006925", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR006926", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006926", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016534", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016534", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR038132", "url": "https://www.ebi.ac.uk/interpro/entry/IPR038132", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:64601", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:64601", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "608550", "url": "http://www.omim.org/entry/608550", "database": "MIM", "categories": [ "Other" ] }, { "id": "619291", "url": "http://www.omim.org/entry/619291", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_Q9H269", "url": "https://www.nextprot.org/entry/NX_Q9H269", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "Q9H269", "url": "https://oglcnac.org/atlas/detail/Q9H269", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q9H269", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9H269", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "HMTIRDH", "url": "https://omabrowser.org/oma/group/HMTIRDH/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1110811at2759", "url": "http://www.orthodb.org/?query=1110811at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12811", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12811", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12811:SF0", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12811:SF0", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "4BX9", "url": "https://www.rcsb.org/structure/4BX9", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF04840", "url": "http://pfam.xfam.org/family/PF04840", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF04841", "url": "http://pfam.xfam.org/family/PF04841", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q9H269", "url": "https://pharos.nih.gov/targets/Q9H269", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q9H269", "url": "http://purl.obolibrary.org/obo/PR_Q9H269", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-9754560", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9754560", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_072097", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_072097", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "Q5JUA9", "url": "https://www.uniprot.org/uniprot/Q5JUA9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5JUA9-1", "url": "https://www.uniprot.org/uniprot/Q5JUA9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5JUB0", "url": "https://www.uniprot.org/uniprot/Q5JUB0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5JUB0-1", "url": "https://www.uniprot.org/uniprot/Q5JUB0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9H269", "url": "https://www.uniprot.org/uniprot/Q9H269", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9H269-1", "url": "https://www.uniprot.org/uniprot/Q9H269-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9H269-2", "url": "https://www.uniprot.org/uniprot/Q9H269-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDCYTANWNPLGDSAFYRKYELYSMDWDLKEELRDCLVAAAPYGGPIALLRNPWRKEKAASVRPVLDIYSASGMPLASLLWKSGPVVSLGWSAEEELLCVQEDGAVLVYGLHGDFRRHFSMGNEVLQNRVLDARIFHTEFGSGVAILTGAHRFTLSANVGDLKLRRMPEVPGLQSAPSCWTVLCQDRVAHILLAVGPDLYLLDHAACSAVTPPGLAPGVSSFLQMAVSFTYRHLALFTDTGYIWMGTASLKEKLCEFNCNIRAPPKQMVWCSRPRSKERAVVVAWERRLMVVGDAPESIQFVLDEDSYLVPELDGVRIFSRSTHEFLHEVPAASEEIFKIASMAPGALLLEAQKEYEKESQKADEYLREIQELGQLTQAVQQCIEAAGHEHQPDMQKSLLRAASFGKCFLDRFPPDSFVHMCQDLRVLNAVRDYHIGIPLTYSQYKQLTIQVLLDRLVLRRLYPLAIQICEYLRLPEVQGVSRILAHWACYKVQQKDVSDEDVARAINQKLGDTPGVSYSDIAARAYGCGRTELAIKLLEYEPRSGEQVPLLLKMKRSKLALSKAIESGDTDLVFTVLLHLKNELNRGDFFMTLRNQPMALSLYRQFCKHQELETLKDLYNQDDNHQELGSFHIRASYAAEERIEGRVAALQTAADAFYKAKNEFAAKATEDQMRLLRLQRRLEDELGGQFLDLSLHDTVTTLILGGHNKRAEQLARDFRIPDKRLWWLKLTALADLEDWEELEKFSKSKKSPIGYLPFVEICMKQHNKYEAKKYASRVGPEQKVKALLLVGDVAQAADVAIEHRNEAELSLVLSHCTGATDGATADKIQRARAQAQKK", "length": 839, "header": "sp|Q9H269-1|VPS16_HUMAN Isoform 1 of Vacuolar protein sorting-associated protein 16 homolog OS=Homo sapiens OX=9606 GN=VPS16 PE=1 SV=2 CANONICAL=Q9H269-1" }, "isoforms": [ { "isoform_ac": "Q5JUA9-1", "url": "", "sequence": { "sequence": "MGAPLEVLQNRVLDARIFHTEFGSGVAILTGAHRFTLSANVGDLKLRRMPEVPGLQSAPSCWTVLCQDRVAHILLAVGPDLYLLDHAACSAVTPPGLAPGVSSFLQMAVSFTYRHLALFTDTGYIWMGTASLKEKLCEFNCNIRAPPKQMVWCSRPRSKERAVVVAWERRLMVVGDAPESIQYKQLTIQVLLDRLVLRRLYPLAIQICEYLRLPEVQGVSRILAHWACYKVQQKDVSDEDVARAINQKLGDTPGVSYSDIAARAYGCGRTELAI", "length": 274, "header": "tr|Q5JUA9-1|VPS16_HUMAN Computationally mapped isoform of Vacuolar protein sorting-associated protein 16 homolog OS=Homo sapiens OX=9606 GN=VPS16 PE=1 SV=1 CANONICAL=Q9H269-1" }, "locus": { "chromosome": "20", "start_pos": 2864080, "end_pos": 2859793, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000453689.5", "url": "https://www.ensembl.org/id/ENST00000453689.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000417031.1", "url": "https://www.ensembl.org/id/ENSP00000417031.1" } ] } }, { "isoform_ac": "Q5JUB0-1", "url": "", "sequence": { "sequence": "MGAPLEVLQNRVLDARIFHTEFGSGVAILTGAHRFTLSANVGDLKLRRMPEVPGLQSAPSCWTVLCQDRVAHILLAVGPDLYLLDHAACSAVTPPGLAPGVSSFLQMAVSFTYRHLALFTDTGYIWMGTASLKEKLCEFNCNIRAPPKQMVWCSRPRSKERAVVVAWERRLMVVGDAPESIQFVLDEDSYLVPELDGVRIFSRSTHEFLHEVPAASEEIFKIASMA", "length": 226, "header": "tr|Q5JUB0-1|VPS16_HUMAN Computationally mapped isoform of Vacuolar protein sorting-associated protein 16 homolog OS=Homo sapiens OX=9606 GN=VPS16 PE=1 SV=8 CANONICAL=Q9H269-1" }, "locus": { "chromosome": "20", "start_pos": 2862091, "end_pos": 2859793, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000417508.1", "url": "https://www.ensembl.org/id/ENST00000417508.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000409840.1", "url": "https://www.ensembl.org/id/ENSP00000409840.1" } ] } }, { "isoform_ac": "Q9H269-1", "url": "", "sequence": { "sequence": "MDCYTANWNPLGDSAFYRKYELYSMDWDLKEELRDCLVAAAPYGGPIALLRNPWRKEKAASVRPVLDIYSASGMPLASLLWKSGPVVSLGWSAEEELLCVQEDGAVLVYGLHGDFRRHFSMGNEVLQNRVLDARIFHTEFGSGVAILTGAHRFTLSANVGDLKLRRMPEVPGLQSAPSCWTVLCQDRVAHILLAVGPDLYLLDHAACSAVTPPGLAPGVSSFLQMAVSFTYRHLALFTDTGYIWMGTASLKEKLCEFNCNIRAPPKQMVWCSRPRSKERAVVVAWERRLMVVGDAPESIQFVLDEDSYLVPELDGVRIFSRSTHEFLHEVPAASEEIFKIASMAPGALLLEAQKEYEKESQKADEYLREIQELGQLTQAVQQCIEAAGHEHQPDMQKSLLRAASFGKCFLDRFPPDSFVHMCQDLRVLNAVRDYHIGIPLTYSQYKQLTIQVLLDRLVLRRLYPLAIQICEYLRLPEVQGVSRILAHWACYKVQQKDVSDEDVARAINQKLGDTPGVSYSDIAARAYGCGRTELAIKLLEYEPRSGEQVPLLLKMKRSKLALSKAIESGDTDLVFTVLLHLKNELNRGDFFMTLRNQPMALSLYRQFCKHQELETLKDLYNQDDNHQELGSFHIRASYAAEERIEGRVAALQTAADAFYKAKNEFAAKATEDQMRLLRLQRRLEDELGGQFLDLSLHDTVTTLILGGHNKRAEQLARDFRIPDKRLWWLKLTALADLEDWEELEKFSKSKKSPIGYLPFVEICMKQHNKYEAKKYASRVGPEQKVKALLLVGDVAQAADVAIEHRNEAELSLVLSHCTGATDGATADKIQRARAQAQKK", "length": 839, "header": "sp|Q9H269-1|VPS16_HUMAN Isoform 1 of Vacuolar protein sorting-associated protein 16 homolog OS=Homo sapiens OX=9606 GN=VPS16 PE=1 SV=2 CANONICAL=Q9H269-1" }, "locus": { "chromosome": "20", "start_pos": 2866571, "end_pos": 2840775, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000380445.8", "url": "https://www.ensembl.org/id/ENST00000380445.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000369810.3", "url": "https://www.ensembl.org/id/ENSP00000369810.3" } ] } }, { "isoform_ac": "Q9H269-2", "url": "", "sequence": { "sequence": "MDCYTANWNPLGDSAFYRKYELYSMDWDLKEELRDCLVAAAPYGGPIALLRNPWRKEKAASVRPVLDIYSASGMPLASLLWKSGPVVSLGWSAEEELLCVQEDGAVLVYGLHGDFRRHFSMGNEVLQNRVLDARIFHTEFGSGVAILTGAHRFTLSANVGDLKLRRMPEVPGLQSAPSCWTVLCQDRVAHILLAVGPDLYLLDHAACSAVTPPGLAPGVSSFLQMAVSFTYRHLALFTDTGYIWMGTASLKEKLCEFNCNIRAPPKQMVWCSRPRSKERAVVVAWERRLMVVGDAPESIQYKQLTIQVLLDRLVLRRLYPLAIQICEYLRLPEVQGVSRILAHWACYKVQQKDVSDEDVARAINQKLGDTPGVSYSDIAARAYGCGRTELAIKLLEYEPRSGEQVPLLLKMKRSKLALSKAIESGDTDLVFTVLLHLKNELNRGDFFMTLRNQPMALSLYRQFCKHQELETLKDLYNQDDNHQELGSFHIRASYAAEERIEGRVAALQTAADAFYKAKNEFAAKATEDQMRLLRLQRRLEDELGGQFLDLSLHDTVTTLILGGHNKRAEQLARDFRIPDKRLWWLKLTALADLEDWEELEKFSKSKKSPIGYLPFVEICMKQHNKYEAKKYASRVGPEQKVKALLLVGDVAQAADVAIEHRNEAELSLVLSHCTGATDGATADKIQRARAQAQKK", "length": 695, "header": "sp|Q9H269-2|VPS16_HUMAN Isoform 2 of Vacuolar protein sorting-associated protein 16 homolog OS=Homo sapiens OX=9606 GN=VPS16 PE=1 SV=2 CANONICAL=Q9H269-1" }, "locus": { "chromosome": "20", "start_pos": 2866571, "end_pos": 2840775, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000380469.7", "url": "https://www.ensembl.org/id/ENST00000380469.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000369836.3", "url": "https://www.ensembl.org/id/ENSP00000369836.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 545, "start_aa": "Ser", "end_pos": 545, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser545", "evidence": [ { "id": "Q9H269", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9H269" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "Q9H269", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9H269" } ] }, { "glytoucan_ac": "G70994MS", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 545, "start_aa": "Ser", "end_pos": 545, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser545", "evidence": [ { "id": "GLY_000142", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000142" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Molecular cloning and characterization of human VPS18, VPS11, VPS16, and VPS33.", "journal": "Gene", "date": "2001", "authors": "Anikster Y., Gahl W.A., Huizing M., Kraemer H., Didier A., Walenta J.", "evidence": [ { "database": "UniProtKB", "id": "Q9H269", "url": "https://www.uniprot.org/uniprot/Q9H269" } ], "reference": [ { "type": "PubMed", "id": "11250079", "url": "https://glygen.org/publication/PubMed/11250079" } ] }, { "title": "Molecular characterization of mammalian homologues of class C Vps proteins that interact with syntaxin-7.", "journal": "J. Biol. Chem.", "date": "2001", "authors": "Kim BY, Kramer H, Yamamoto A, Kominami E, Kohsaka S, Akazawa C", "evidence": [ { "database": "UniProtKB", "id": "Q9H269", "url": "https://www.uniprot.org/uniprot/Q9H269" } ], "reference": [ { "type": "PubMed", "id": "11382755", "url": "https://glygen.org/publication/PubMed/11382755" } ] }, { "title": "Integral and associated lysosomal membrane proteins.", "journal": "Traffic", "date": "2007", "authors": "Schroder B, Wrocklage C, Pan C, Jager R, Kosters B, Schafer H, Elsasser HP, Mann M, Hasilik A", "evidence": [ { "database": "UniProtKB", "id": "Q9H269", "url": "https://www.uniprot.org/uniprot/Q9H269" } ], "reference": [ { "type": "PubMed", "id": "17897319", "url": "https://glygen.org/publication/PubMed/17897319" } ] }, { "title": "Beclin1-binding UVRAG targets the class C Vps complex to coordinate autophagosome maturation and endocytic trafficking.", "journal": "Nat. Cell Biol.", "date": "2008", "authors": "Li Q., Lee J.S., Deretic V., Liang C., Roberts E.A., Jung J.U., Feng P., Gack M.U., Inn K.S., Akazawa C., Vergne I.", "evidence": [ { "database": "UniProtKB", "id": "Q9H269", "url": "https://www.uniprot.org/uniprot/Q9H269" } ], "reference": [ { "type": "PubMed", "id": "18552835", "url": "https://glygen.org/publication/PubMed/18552835" } ] }, { "title": "Identification of the switch in early-to-late endosome transition.", "journal": "Cell", "date": "2010", "authors": "Poteryaev D, Datta S, Ackema K, Zerial M, Spang A", "evidence": [ { "database": "UniProtKB", "id": "Q9H269", "url": "https://www.uniprot.org/uniprot/Q9H269" } ], "reference": [ { "type": "PubMed", "id": "20434987", "url": "https://glygen.org/publication/PubMed/20434987" } ] }, { "title": "Lysosomal trafficking, antigen presentation, and microbial killing are controlled by the Arf-like GTPase Arl8b.", "journal": "Immunity", "date": "2011", "authors": "Garg S, Sharma M, Ung C, Tuli A, Barral DC, Hava DL, Veerapen N, Besra GS, Hacohen N, Brenner MB", "evidence": [ { "database": "UniProtKB", "id": "Q9H269", "url": "https://www.uniprot.org/uniprot/Q9H269" } ], "reference": [ { "type": "PubMed", "id": "21802320", "url": "https://glygen.org/publication/PubMed/21802320" } ] }, { "title": "Tethering complexes in the endocytic pathway: CORVET and HOPS.", "journal": "FEBS J.", "date": "2013", "authors": "Solinger JA, Spang A", "evidence": [ { "database": "UniProtKB", "id": "Q9H269", "url": "https://www.uniprot.org/uniprot/Q9H269" } ], "reference": [ { "type": "PubMed", "id": "23351085", "url": "https://glygen.org/publication/PubMed/23351085" } ] }, { "title": "Structural basis of Vps33A recruitment to the human HOPS complex by Vps16.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2013", "authors": "Graham SC, Wartosch L, Gray SR, Scourfield EJ, Deane JE, Luzio JP, Owen DJ", "evidence": [ { "database": "UniProtKB", "id": "Q9H269", "url": "https://www.uniprot.org/uniprot/Q9H269" } ], "reference": [ { "type": "PubMed", "id": "23901104", "url": "https://glygen.org/publication/PubMed/23901104" } ] }, { "title": "The HOPS complex mediates autophagosome-lysosome fusion through interaction with syntaxin 17.", "journal": "Mol. Biol. Cell", "date": "2014", "authors": "Jiang P, Nishimura T, Sakamaki Y, Itakura E, Hatta T, Natsume T, Mizushima N", "evidence": [ { "database": "UniProtKB", "id": "Q9H269", "url": "https://www.uniprot.org/uniprot/Q9H269" } ], "reference": [ { "type": "PubMed", "id": "24554770", "url": "https://glygen.org/publication/PubMed/24554770" } ] }, { "title": "Mammalian CORVET is required for fusion and conversion of distinct early endosome subpopulations.", "journal": "Traffic", "date": "2014", "authors": "Perini ED, Schaefer R, Stoter M, Kalaidzidis Y, Zerial M", "evidence": [ { "database": "UniProtKB", "id": "Q9H269", "url": "https://www.uniprot.org/uniprot/Q9H269" } ], "reference": [ { "type": "PubMed", "id": "25266290", "url": "https://glygen.org/publication/PubMed/25266290" } ] }, { "title": "Recruitment of VPS33A to HOPS by VPS16 Is Required for Lysosome Fusion with Endosomes and Autophagosomes.", "journal": "Traffic", "date": "2015", "authors": "Wartosch L, Gunesdogan U, Graham SC, Luzio JP", "evidence": [ { "database": "UniProtKB", "id": "Q9H269", "url": "https://www.uniprot.org/uniprot/Q9H269" } ], "reference": [ { "type": "PubMed", "id": "25783203", "url": "https://glygen.org/publication/PubMed/25783203" } ] }, { "title": "Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia.", "journal": "Sci. Rep.", "date": "2016", "authors": "Cai X, Chen X, Wu S, Liu W, Zhang X, Zhang D, He S, Wang B, Zhang M, Zhang Y, Li Z, Luo K, Cai Z, Li W", "evidence": [ { "database": "UniProtKB", "id": "Q9H269", "url": "https://www.uniprot.org/uniprot/Q9H269" } ], "reference": [ { "type": "PubMed", "id": "27174565", "url": "https://glygen.org/publication/PubMed/27174565" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9H269", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9H269" }, { "database": "O-GlcNAc Atlas", "id": "Q9H269", "url": "https://oglcnac.org/atlas/detail/Q9H269" }, { "database": "GlyGen", "id": "GLY_000142", "url": "https://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.", "journal": "Ann. Neurol.", "date": "2020", "authors": "Steel D, Zech M, Zhao C, Barwick KES, Burke D, Demailly D, Kumar KR, Zorzi G, Nardocci N, Kaiyrzhanov R, Wagner M, Iuso A, Berutti R, Skorvanek M, Necpal J, Davis R, Wiethoff S, Mankad K, Sudhakar S, Ferrini A, Sharma S, Kamsteeg EJ, Tijssen MA, Verschuuren C, van Egmond ME, Flowers JM, McEntagart M, Tucci A, Coubes P, Bustos BI, Gonzalez-Latapi P, Tisch S, Darveniza P, Gorman KM, Peall KJ, Botzel K, Koch JC, Kmiec T, Plecko B, Boesch S, Haslinger B, Jech R, Garavaglia B, Wood N, Houlden H, Gissen P, Lubbe SJ, Sue CM, Cif L, Mencacci NE, Anderson G, Kurian MA, Winkelmann J", "evidence": [ { "database": "UniProtKB", "id": "Q9H269", "url": "https://www.uniprot.org/uniprot/Q9H269" } ], "reference": [ { "type": "PubMed", "id": "32808683", "url": "https://glygen.org/publication/PubMed/32808683" } ] }, { "title": "ORF3a of the COVID-19 virus SARS-CoV-2 blocks HOPS complex-mediated assembly of the SNARE complex required for autolysosome formation.", "journal": "Developmental cell", "date": "2021", "authors": "Miao G, Zhao H, Li Y, Ji M, Chen Y, Shi Y, Bi Y, Wang P, Zhang H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9754560", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9754560" } ], "reference": [ { "type": "PubMed", "id": "33422265", "url": "https://glygen.org/publication/PubMed/33422265" } ] }, { "title": "Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease.", "journal": "EMBO molecular medicine", "date": "2021", "authors": "Sofou K, Meier K, Sanderson LE, Kaminski D, Montoliu-Gaya L, Samuelsson E, Blomqvist M, Agholme L, Gartner J, Muhlhausen C, Darin N, Barakat TS, Schlotawa L, van Ham T, Asin Cayuela J, Sterky FH", "evidence": [ { "database": "RefSeq", "id": "NP_072097", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_072097" } ], "reference": [ { "type": "PubMed", "id": "33938619", "url": "https://glygen.org/publication/PubMed/33938619" } ] }, { "title": 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Early-Onset Generalized Dystonia.", "journal": "Movement disorders : official journal of the Movement Disorder Society", "date": "2021", "authors": "Ostrozovicova M, Jech R, Steel D, Pavelekova P, Han V, Gdovinova Z, Lichtner P, Kurian MA, Wiethoff S, Houlden H, Havrankova P, Winkelmann J, Zech M, Skorvanek M", "evidence": [ { "database": "RefSeq", "id": "NP_072097", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_072097" } ], "reference": [ { "type": "PubMed", "id": "33998058", "url": "https://glygen.org/publication/PubMed/33998058" } ] }, { "title": "Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings.", "journal": "Clinical genetics", "date": "2021", "authors": "Yildiz Y, Kosukcu C, Aygun D, Akcaboy M, Oztek Celebi FZ, Tasci Yildiz Y, Sahin G, Aytekin C, Yuksel D, Lay I, Ozgul RK, Dursun A", "evidence": [ { "database": "RefSeq", "id": "NP_072097", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_072097" 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