{ "uniprot_canonical_ac": "O00624-1", "uniprot_ac": "O00624", "uniprot_id": "NPT3_HUMAN", "mass": { "chemical_mass": 47277.0, "monoisotopic_mass": 47277.0 }, "refseq": { "ac": "NP_001273052", "name": "sodium-dependent phosphate transport protein 3 isoform a", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273052" }, "gene_names": [ { "name": "SLC17A2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00624", "id": "O00624" }, { "name": "NPT3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273052", "id": "NP_001273052" }, { "name": "NPT3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00624", "id": "O00624" }, { "name": "SLC17A2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273052", "id": "NP_001273052" } ], "protein_names": [ { "name": "Sodium-dependent phosphate transport protein 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00624" }, { "name": "Na(+)/PI cotransporter 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00624" }, { "name": "Sodium/phosphate cotransporter 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00624" }, { "name": "Solute carrier family 17 member 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00624" }, { "name": "sodium phosphate transporter 3; solute carrier family 17 (vesicular glutamate transporter), member 2; Na(+)/PI cotransporter 3; sodium-dependent phosphate transport protein 3; sodium/phosphate cotransporter 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273052", "id": "NP_001273052" }, { "name": "sodium-dependent phosphate transport protein 3 isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273052", "id": "NP_001273052" } ], "function": [ { "annotation": "A novel gout-associated gene, SLC17A2, was identified (OR = 0.83, PFDR = 0.017).The common variant rs2071299 is an expression associated SNP and SLC17A2 mRNA expression is modified by different genotypes of this variant. the mRNA expression and protein levels of SLC17A2 between healthy individuals and hyperuricemia patients were significantly different Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001273052", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273052" }, { "database": "PubMed", "id": "29497127", "url": "https://glygen.org/publication/PubMed/29497127" } ] }, { "annotation": "Acts as a membrane potential-dependent organic anion transporter, the transport requires a low concentration of chloride ions (By similarity). Mediates chloride-dependent transport of urate (By similarity). Can actively transport inorganic phosphate into cells via Na(+) cotransport (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O00624", "url": "https://www.uniprot.org/uniprot/O00624#function" }, { "database": "UniProtKB", "id": "Q5SZA1", "url": "https://www.uniprot.org/uniprot/Q5SZA1#function" } ] }, { "annotation": "Association was detected in premenopausal women of European descent between percent iron saturation and variants in the chromosome 6 region containing both HFE and SLC17A2 genes.", "evidence": [ { "database": "RefSeq", "id": "NP_001273052", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273052" }, { "database": "PubMed", "id": "26852655", "url": "https://glygen.org/publication/PubMed/26852655" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001273052", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273052" }, { "database": "PubMed", "id": "19890391", "url": "https://glygen.org/publication/PubMed/19890391" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs374131182", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374131182" }, { "id": "rs374131182", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374131182" }, { "id": "rs374131182", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374131182#frequency_tab" }, { "id": "rs374131182", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374131182" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 49, "end_pos": 49, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->NTI).", "chr_id": "6", "chr_pos": "25923789", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T49", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00624", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00624" }, { "id": "rs866173789", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs866173789" }, { "id": "rs866173789", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs866173789#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 58, "end_pos": 58, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NAS->NAF).", "chr_id": "6", "chr_pos": "25923762", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S58", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs866173789", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs866173789" }, { "id": "rs866173789", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs866173789#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 58, "end_pos": 58, "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->NAY).", "chr_id": "6", "chr_pos": "25923762", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S58", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750851628", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750851628" }, { "id": "rs750851628", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750851628" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 70, "end_pos": 70, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->NNA).", "chr_id": "6", "chr_pos": "25923727", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S70", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1394476548", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1394476548" }, { "id": "rs1394476548", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1394476548" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 70, "end_pos": 70, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->NNF).", "chr_id": "6", "chr_pos": "25923726", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S70", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "56.42", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000112337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112337" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000112337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112337" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "27.66", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000112337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112337" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000112337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112337" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "44.34", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000112337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112337" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "23.7", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000112337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112337" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000112337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112337" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "30.59", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000112337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112337" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "19.86", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000112337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112337" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000112337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112337" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "94.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112337" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "19.26", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000112337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112337" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "20.53", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000112337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112337" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O00624", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00624" } ], "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, 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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": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00624", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00624" } ], "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", 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"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": "No", "trend": "up", "name": "Head and neck cancer 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This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O00624", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00624" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", 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"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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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00624" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. 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"categories": [ "Protein Classification" ] }, { "id": "CHEMBL3769300", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL3769300", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "SLC17A2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC17A2", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "10246", "url": "https://www.ncbi.nlm.nih.gov/gene/10246", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "10930", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10930", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O00624", "url": "https://www.ebi.ac.uk/intact/interactors/id:O00624*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR011701", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011701", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR020846", "url": "https://www.ebi.ac.uk/interpro/entry/IPR020846", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036259", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036259", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:10246", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10246", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "611049", "url": "http://www.omim.org/entry/611049", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O00624", "url": "https://www.nextprot.org/entry/NX_O00624", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O00624", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00624", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "FYKHPKD", "url": "https://omabrowser.org/oma/group/FYKHPKD/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2685946at2759", "url": "http://www.orthodb.org/?query=2685946at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11662", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11662", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11662:SF193", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11662:SF193", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF07690", "url": "http://pfam.xfam.org/family/PF07690", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O00624", "url": "https://pharos.nih.gov/targets/O00624", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O00624", "url": "http://purl.obolibrary.org/obo/PR_O00624", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001273052", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273052", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "71255", "url": "https://www.rhea-db.org/rhea/71255", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "72319", "url": "https://www.rhea-db.org/rhea/72319", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "O00624", "url": "https://www.uniprot.org/uniprot/O00624", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00624-1", "url": "https://www.uniprot.org/uniprot/O00624-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00624-2", "url": "https://www.uniprot.org/uniprot/O00624-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00624-3", "url": "https://www.uniprot.org/uniprot/O00624-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDGKPATRKGPDFCSLRYGLALIMHFSNFTMITQRVSLSIAIIAMVNTTQQQGLSNASTEGPVADAFNNSSISIKEFDTKASVYQWSPETQGIIFSSINYGIILTLIPSGYLAGIFGAKKMLGAGLLISSLLTLFTPLAADFGVILVIMVRTVQGMAQGMAWTGQFTIWAKWAPPLERSKLTTIAGSGSAFGSFIILCVGGLISQALSWPFIFYIFGSTGCVCCLLWFTVIYDDPMHHPCISVREKEHILSSLAQQPSSPGRAVPIKAMVTCLPLWAIFLGFFSHFWLCTIILTYLPTYISTLLHVNIRDSGVLSSLPFIAAASCTILGGQLADFLLSRNLLRLITVRKLFSSLGLLLPSICAVALPFVASSYVITIILLILIPGTSNLCDSGFIINTLDIAPRYASFLMGISRGFGLIAGIISSTATGFLISQVGPVY", "length": 439, "header": "sp|O00624-1|NPT3_HUMAN Isoform 1 of Sodium-dependent phosphate transport protein 3 OS=Homo sapiens OX=9606 GN=SLC17A2 PE=2 SV=2 CANONICAL=O00624-1" }, "isoforms": [ { "isoform_ac": "O00624-1", "url": "", "sequence": { "sequence": "MDGKPATRKGPDFCSLRYGLALIMHFSNFTMITQRVSLSIAIIAMVNTTQQQGLSNASTEGPVADAFNNSSISIKEFDTKASVYQWSPETQGIIFSSINYGIILTLIPSGYLAGIFGAKKMLGAGLLISSLLTLFTPLAADFGVILVIMVRTVQGMAQGMAWTGQFTIWAKWAPPLERSKLTTIAGSGSAFGSFIILCVGGLISQALSWPFIFYIFGSTGCVCCLLWFTVIYDDPMHHPCISVREKEHILSSLAQQPSSPGRAVPIKAMVTCLPLWAIFLGFFSHFWLCTIILTYLPTYISTLLHVNIRDSGVLSSLPFIAAASCTILGGQLADFLLSRNLLRLITVRKLFSSLGLLLPSICAVALPFVASSYVITIILLILIPGTSNLCDSGFIINTLDIAPRYASFLMGISRGFGLIAGIISSTATGFLISQVGPVY", "length": 439, "header": "sp|O00624-1|NPT3_HUMAN Isoform 1 of Sodium-dependent phosphate transport protein 3 OS=Homo sapiens OX=9606 GN=SLC17A2 PE=2 SV=2 CANONICAL=O00624-1" }, "locus": { "chromosome": "6", "start_pos": 25925796, "end_pos": 25914565, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000265425.3", "url": "https://www.ensembl.org/id/ENST00000265425.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000265425.3", "url": "https://www.ensembl.org/id/ENSP00000265425.3" } ] } }, { "isoform_ac": "O00624-2", "url": "", "sequence": { "sequence": "MDGKPATRKGPDFCSLRYGLALIMHFSNFTMITQRVSLSIAIIAMVNTTQQQGLSNASTEGPVADAFNNSSISIKEFDTKASVYQWSPETQGIIFSSINYGIILTLIPSGYLAGIFGAKKMLGAGLLISSLLTLFTPLAADFGVILVIMVRTVQGMAQGMAWTGQFTIWAKWAPPLERSKLTTIAGSGSAFGSFIILCVGGLISQALSWPFIFYIFGSTGCVCCLLWFTVIYDDPMHHPCISVREKEHILSSLAQQPSSPGRAVPIKAMVTCLPLWAIFLGFFSHFWLCTIILTYLPTYISTLLHVNIRDSGVLSSLPFIAAASCTILGGQLADFLLSRNLLRLITVRKLFSSLDMQVSSWESQGDLGSSQESSLPLPLDSSSVRILSLVGGMSFSCLLQSTCLAWSFTSRLDKQNFKTGPKRGPLPASEDIKLQT", "length": 436, "header": "sp|O00624-2|NPT3_HUMAN Isoform 2 of Sodium-dependent phosphate transport protein 3 OS=Homo sapiens OX=9606 GN=SLC17A2 PE=2 SV=2 CANONICAL=O00624-1" }, "locus": { "chromosome": "6", "start_pos": 25925796, "end_pos": 25913298, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000360488.7", "url": "https://www.ensembl.org/id/ENST00000360488.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000353677.3", "url": "https://www.ensembl.org/id/ENSP00000353677.3" } ] } }, { "isoform_ac": "O00624-3", "url": "", "sequence": { "sequence": "MDGKPATRKGPDFCSLRYGLALIMHFSNFTMITQRVSLSIAIIAMVNTTQQQGLSNASTEGPVADAFNNSSISIKEFDTKASVYQWSPETQGIIFSSINYGIILTLIPSGYLAGIFGAKKMLGAGLLISSLLTLFTPLAADFGVILVIMVRTVQGMAQGMAWTGQFTIWAKWAPPLERSKLTTIAGSGSAFGSFIILCVGGLISQALSWPFIFYIFGSTGCVCCLLWFTVIYDDPMHHPCISVREKEHILSSLAQQPSSPGRAVPIKAMVTCLPLWAIFLGFFSHFWLCTIILTYLPTYISTLLHVNIRDSGVLSSLPFIAAASCTILGGQLADFLLSRNLLRLITVRKLFSSLGLLLPSICAVALPFVASSYVITIILLILIPGTSNLCDSGFIINTLDIAPRYASFLMGISRGFGLIAGIISSTATGFLISQDFESGWRNVFFLSAAVNMFGLVFYLTFGQAELQDWAKERTLTRL", "length": 478, "header": "sp|O00624-3|NPT3_HUMAN Isoform 3 of Sodium-dependent phosphate transport protein 3 OS=Homo sapiens OX=9606 GN=SLC17A2 PE=2 SV=2 CANONICAL=O00624-1" }, "locus": { "chromosome": "6", "start_pos": 25925796, "end_pos": 25913320, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000377850.8", "url": "https://www.ensembl.org/id/ENST00000377850.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000367081.3", "url": "https://www.ensembl.org/id/ENSP00000367081.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 47, "start_aa": "Asn", "end_pos": 47, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn47", "evidence": [ { "id": "O00624", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00624#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 56, "start_aa": "Asn", "end_pos": 56, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn56", "evidence": [ { "id": "O00624", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00624#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 68, "start_aa": "Asn", "end_pos": 68, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn68", "evidence": [ { "id": "O00624", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00624#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 69, "start_aa": "Asn", "end_pos": 69, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn69", "evidence": [ { "id": "O00624", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00624#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O00624", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00624" }, { "id": "26374642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26374642" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Common polymorphisms influencing serum uric acid levels contribute to susceptibility to gout, but not to coronary artery disease.", "journal": "PloS one", "date": "2009", "authors": "Stark K, Reinhard W, Grassl M, Erdmann J, Schunkert H, Illig T, Hengstenberg C", "evidence": [ { "database": "RefSeq", "id": "NP_001273052", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273052" } ], "reference": [ { "type": "PubMed", "id": "19890391", "url": "https://glygen.org/publication/PubMed/19890391" } ] }, { "title": "Proteomic analysis of O-GlcNAcylated proteins in invasive ductal breast carcinomas with and without lymph node metastasis.", "journal": "Amino acids", "date": "2016", "authors": "Jiang K, Gao Y, Hou W, Tian F, Ying W, Li L, Bai B, Hou G, Wang PG, Zhang L", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00624", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00624" } ], "reference": [ { "type": "PubMed", "id": "26374642", "url": "https://glygen.org/publication/PubMed/26374642" } ] }, { "title": "Genome-wide association study of serum iron phenotypes in premenopausal women of European descent.", "journal": "Blood cells, molecules & diseases", "date": "2016", "authors": "Koller DL, Imel EA, Lai D, Padgett LR, Acton D, Gray A, Peacock M, Econs MJ, Foroud T", "evidence": [ { "database": "RefSeq", "id": "NP_001273052", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273052" } ], "reference": [ { "type": "PubMed", "id": "26852655", "url": "https://glygen.org/publication/PubMed/26852655" } ] }, { "title": "Genetic variants in two pathways influence serum urate levels and gout risk: a systematic pathway analysis.", "journal": "Scientific reports", "date": "2018", "authors": "Dong Z, Zhou J, Xu X, Jiang S, Li Y, Zhao D, Yang C, Ma Y, Wang Y, He H, Ji H, Zhang J, Yuan Z, Yang Y, Wang X, Pang Y, Jin L, Zou H, Wang J", "evidence": [ { "database": "RefSeq", "id": "NP_001273052", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273052" } ], "reference": [ { "type": "PubMed", "id": "29497127", "url": "https://glygen.org/publication/PubMed/29497127" } ] }, { "title": "A 1.1-Mb transcript map of the hereditary hemochromatosis locus.", "journal": "Genome Res.", "date": "1997", "authors": "Ruddy DA, Kronmal GS, Lee VK, Mintier GA, Quintana L, Domingo R Jr, Meyer NC, Irrinki A, McClelland EE, Fullan A, Mapa FA, Moore T, Thomas W, Loeb DB, Harmon C, Tsuchihashi Z, Wolff RK, Schatzman RC, Feder JN", "evidence": [ { "database": "UniProtKB", "id": "O00624", "url": "https://www.uniprot.org/uniprot/O00624" } ], "reference": [ { "type": "PubMed", "id": "9149941", "url": "https://glygen.org/publication/PubMed/9149941" } ] } ], "pathway": [ { "id": "hsa:10246", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10246", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D4A3I8-1", "protein_name": "Solute carrier family 17, member 2", "gene_name": "Slc17a2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MDEKPTTRKGSGFCSLRYALALVMHFSNFTMITQRVSLSIAIIAMVNSTQHQDPANASAEGPVMNLLSNRSRGIKDFSTRAAVYQWSTETQGIIFSSISYGIILTLIPSGYLAGIFGAKQILGAGLLISSLLTLFTPLAADFGVILVIVIRTVQGMAQGMSWTGQFTIWAKWAPPLERSKLTSIAGSGAAFGSFIILCVGGLISQALGWPFIFYIFGSIGCVCCVLWFTMIYDDPMHHPCISVKEKEYITSSVAQQSSSPRRSIPIKAMVRCLPLWAIFMGFFSHFWLCTIIITYLPTYISTVLHVNIRDSGVLSSLPFIAASSCTILGGQMADFLLSRNLLSLITVRKLFSSLGLLLPSLCAVALPFVTSSYIATIVLLILIPGTSNLCDSGFIINTLDVAPRYASFLMGISRGFGLTAGIISSTTTGFLISQVGHVIEHLQVAGF", "length": 447 }, "evidence": [ { "id": "45932343", "url": "http://www.informatics.jax.org/homology/45932343", "database": "MGI" }, { "id": "O00624", "url": "https://omabrowser.org/oma/group/O00624/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q5SZA1-1", "protein_name": "Sodium-dependent phosphate transport protein 3", "gene_name": "Slc17a2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MDEKPTTRKGSGFCSLRYALALIMHFSNFTMITQRVSLSIAIIAMVNSTQHQDPANASTEGPVMDLLSNQSRGIKDFSTRAAVYQWSTETQGIIFSSISYGIILTLIPSGYLAGIFGAKQILGAGLLISSLLTLFTPLAADFGVILVIVIRTVQGMAQGMAWTGQFTIWAKWAPPLERSKLTSIAGSGAAFGSFIILCVGGLISQALGWPFIFYIFGSIGCVCCVLWFTVIYDDPMHHPCISVREKEHITSSVAQQSSSPRRSVPIKAMVRCLPLWAIFMGFFSHFWLCTIIITYLPTYISTVLHVNIRDSGVLSSLPFIAASSCTILGGQMADFLLSRNLLSLITVRKLFSSLGLLLPSLCAVALPFVTSSYIATIVLLILIPGTSNLCDSGFIINTLDVAPRYASFLMGISRGFGLTAGIISSTTTGFLISQDSESGWRNVFFLSAAVNMFGLIFYLIFGQAEIQSWAKERTLTRL", "length": 478 }, "evidence": [ { "id": "45932343", "url": "http://www.informatics.jax.org/homology/45932343", "database": "MGI" }, { "id": "O00624", "url": "https://omabrowser.org/oma/group/O00624/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q8MS66-1", "protein_name": "Major facilitator superfamily transporter 12, isoform A", "gene_name": "MFS12", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MGFEPSEDKARPGGLGVRHWQAVLLFVGMMINYFQRVNISAAIVPMTQSTAGAPFYTWDTSDKSLILSSFFWGYVVSQVPAGLLAKRFGAKLVLGLATAIGGILCFFHPIAAKSGWQSICVLRVLTGLVQGTVYPCVHTLLAKWVPRTERGLLTTGVYSGAQFGTAVILVTSGFIFESSMGWPGLFYLSGGLSLAWALLFFWQAANEPVTASRISKGEVEYIESLTGSNSSSQSMPVPWMSIFRSPAFYGLLAAHCGFTWGFYTLLTEMPTYMSMVLQLNVKSNAFLSSLPYFAMGLLCFVVSPISDLLINRGTISITTARKLFNSIGQWGPMACLIGLGYMTADEKTWAILLLTLAVGINAGCSCGYLINHIDLSPNFAGPMMGVTNGIAGVTSIIAPLVVGAIVSDEEDPSQWRMVFFITGGIYLVCNTIFVIFGKATIQIWNEPPSTSSTMTLRSHQENDSKSIVPTSDKDIRY", "length": 477 }, "evidence": [ { "id": "O00624", "url": "https://omabrowser.org/oma/group/O00624/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O00624", "url": "https://www.uniprot.org/uniprot/O00624" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O00624", "url": "https://www.uniprot.org/uniprot/O00624" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "O00624", "url": "https://www.uniprot.org/uniprot/O00624" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "O00624", "url": "https://www.uniprot.org/uniprot/O00624" } ], "pmid": "" }, { "name": "urate transmembrane transporter activity", "id": "GO:0015143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015143", "evidence": [ { "database": "UniProtKB", "id": "O00624", "url": "https://www.uniprot.org/uniprot/O00624" } ], "pmid": "" }, { "name": "sodium:phosphate symporter activity", "id": "GO:0005436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005436", "evidence": [ { "database": "UniProtKB", "id": "O00624", "url": "https://www.uniprot.org/uniprot/O00624" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "phosphate-containing compound metabolic process", "id": "GO:0006796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006796", "evidence": [ { "database": "UniProtKB", "id": "O00624", "url": "https://www.uniprot.org/uniprot/O00624" } ], "pmid": "" }, { "name": "sodium ion transport", "id": "GO:0006814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006814", "evidence": [ { "database": "UniProtKB", "id": "O00624", "url": "https://www.uniprot.org/uniprot/O00624" } ], "pmid": "" }, { "name": "monoatomic anion transport", "id": "GO:0006820", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006820", "evidence": [ { "database": "UniProtKB", "id": "O00624", "url": "https://www.uniprot.org/uniprot/O00624" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 28, "end_pos": 30, "annotation": "n_glycosylation_sequon" }, { "start_pos": 47, "end_pos": 49, "annotation": "n_glycosylation_sequon" }, { "start_pos": 56, "end_pos": 58, "annotation": "n_glycosylation_sequon" }, { "start_pos": 68, "end_pos": 70, "annotation": "n_glycosylation_sequon" }, { "start_pos": 69, "end_pos": 71, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "71255", "name": "", "equation": "3 Na(+)(out) + phosphate(out) = 3 Na(+)(in) + phosphate(in)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [], "evidence": [ { "id": "71255", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/71255" } ] }, { "id": "72319", "name": "", "equation": "n chloride(in) + urate(out) = n chloride(out) + urate(in)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [], "evidence": [ { "id": "72319", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/72319" } ] } ], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 47, 56, 68, 69 ], "o_linked_sites": [], "snv_sites": [ 49, 58, 70 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 28, "end_pos": 30 }, { "start_pos": 47, "end_pos": 49 }, { "start_pos": 56, "end_pos": 58 }, { "start_pos": 68, "end_pos": 70 }, { "start_pos": 69, "end_pos": 71 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 4 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 4 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }